SNP Links for Protein (Select 40805870) - SNP

Select item 14901336801.

rs1490133680 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 20:63869303 (GRCh38)
20:62500656 (GRCh37)
Canonical SPDI:: NC_000020.11:63869302:C:G,NC_000020.11:63869302:C:T
Gene:: TPD52L2 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.63869303C>G, NC_000020.11:g.63869303C>T, NC_000020.10:g.62500656C>G, NC_000020.10:g.62500656C>T, NG_029863.1:g.9076C>G, NG_029863.1:g.9076C>T, NM_003288.4:c.27C>G, NM_003288.4:c.27C>T, NM_003288.3:c.27C>G, NM_003288.3:c.27C>T, NM_199360.3:c.27C>G, NM_199360.3:c.27C>T, NM_199360.2:c.27C>G, NM_199360.2:c.27C>T, NM_199362.3:c.27C>G, NM_199362.3:c.27C>T, NM_199362.2:c.27C>G, NM_199362.2:c.27C>T, NM_199361.3:c.27C>G, NM_199361.3:c.27C>T, NM_199361.2:c.27C>G, NM_199361.2:c.27C>T, NM_199363.3:c.27C>G, NM_199363.3:c.27C>T, NM_199363.2:c.27C>G, NM_199363.2:c.27C>T, NM_199359.3:c.27C>G, NM_199359.3:c.27C>T, NM_199359.2:c.27C>G, NM_199359.2:c.27C>T, NR_045090.2:n.123C>G, NR_045090.2:n.123C>T, NR_045090.1:n.165C>G, NR_045090.1:n.165C>T, NM_001243895.2:c.27C>G, NM_001243895.2:c.27C>T, NM_001243895.1:c.27C>G, NM_001243895.1:c.27C>T, NM_001243891.2:c.27C>G, NM_001243891.2:c.27C>T, NM_001243891.1:c.27C>G, NM_001243891.1:c.27C>T, NM_001243894.2:c.27C>G, NM_001243894.2:c.27C>T, NM_001243894.1:c.27C>G, NM_001243894.1:c.27C>T, NP_003279.2:p.Asn9Lys, NP_955392.1:p.Asn9Lys, NP_955394.1:p.Asn9Lys, NP_955393.1:p.Asn9Lys, NP_955395.1:p.Asn9Lys, NP_955391.1:p.Asn9Lys, NP_001230824.1:p.Asn9Lys, NP_001230820.1:p.Asn9Lys, NP_001230823.1:p.Asn9Lys

Select item 14859535062.

rs1485953506 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:63882790 (GRCh38)
20:62514143 (GRCh37)
Canonical SPDI:: NC_000020.11:63882789:C:G
Gene:: TPD52L2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000020.11:g.63882790C>G, NC_000020.10:g.62514143C>G, NG_029863.1:g.22563C>G, NM_003288.4:c.446C>G, NM_003288.3:c.446C>G, NM_199360.3:c.446C>G, NM_199360.2:c.446C>G, NM_199362.3:c.446C>G, NM_199362.2:c.446C>G, NM_199361.3:c.386C>G, NM_199361.2:c.386C>G, NM_199363.3:c.386C>G, NM_199363.2:c.386C>G, NM_199359.3:c.386C>G, NM_199359.2:c.386C>G, NR_045090.2:n.511C>G, NR_045090.1:n.553C>G, NM_001243895.2:c.446C>G, NM_001243895.1:c.446C>G, NM_001243891.2:c.371C>G, NM_001243891.1:c.371C>G, NM_001243892.2:c.317C>G, NM_001243892.1:c.317C>G, NP_003279.2:p.Ser149Cys, NP_955392.1:p.Ser149Cys, NP_955394.1:p.Ser149Cys, NP_955393.1:p.Ser129Cys, NP_955395.1:p.Ser129Cys, NP_955391.1:p.Ser129Cys, NP_001230824.1:p.Ser149Cys, NP_001230820.1:p.Ser124Cys, NP_001230821.1:p.Ser106Cys

Select item 14795438003.

rs1479543800 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:63873679 (GRCh38)
20:62505032 (GRCh37)
Canonical SPDI:: NC_000020.11:63873678:A:G
Gene:: TPD52L2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.63873679A>G, NC_000020.10:g.62505032A>G, NG_029863.1:g.13452A>G, NM_003288.4:c.177A>G, NM_003288.3:c.177A>G, NM_199360.3:c.177A>G, NM_199360.2:c.177A>G, NM_199362.3:c.177A>G, NM_199362.2:c.177A>G, NM_199361.3:c.177A>G, NM_199361.2:c.177A>G, NM_199363.3:c.177A>G, NM_199363.2:c.177A>G, NM_199359.3:c.177A>G, NM_199359.2:c.177A>G, NR_045090.2:n.273A>G, NR_045090.1:n.315A>G, NM_001243895.2:c.177A>G, NM_001243895.1:c.177A>G, NM_001243891.2:c.102A>G, NM_001243891.1:c.102A>G, NM_001243892.2:c.108A>G, NM_001243892.1:c.108A>G, NM_001243894.2:c.177A>G, NM_001243894.1:c.177A>G

Select item 14794854004.

rs1479485400 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCGGACTCCTGC>- [Show Flanks]
Chromosome:: 20:63869375 (GRCh38)
20:62500728 (GRCh37)
Canonical SPDI:: NC_000020.11:63869370:CTGCCCGGACTCCTGC:CTGC
Gene:: TPD52L2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,non_coding_transcript_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: CTGC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.63869375_63869386del, NC_000020.10:g.62500728_62500739del, NG_029863.1:g.9148_9159del, NM_003288.4:c.99_110del, NM_003288.3:c.99_110del, NM_199360.3:c.99_110del, NM_199360.2:c.99_110del, NM_199362.3:c.99_110del, NM_199362.2:c.99_110del, NM_199361.3:c.99_110del, NM_199361.2:c.99_110del, NM_199363.3:c.99_110del, NM_199363.2:c.99_110del, NM_199359.3:c.99_110del, NM_199359.2:c.99_110del, NR_045090.2:n.195_206del, NR_045090.1:n.237_248del, NM_001243895.2:c.99_110del, NM_001243895.1:c.99_110del, NM_001243892.2:c.30_41del, NM_001243892.1:c.30_41del, NM_001243894.2:c.99_110del, NM_001243894.1:c.99_110del, NP_003279.2:p.Arg34_Ala37del, NP_955392.1:p.Arg34_Ala37del, NP_955394.1:p.Arg34_Ala37del, NP_955393.1:p.Arg34_Ala37del, NP_955395.1:p.Arg34_Ala37del, NP_955391.1:p.Arg34_Ala37del, NP_001230824.1:p.Arg34_Ala37del, NP_001230821.1:p.Arg11_Ala14del, NP_001230823.1:p.Arg34_Ala37del

Select item 14790476465.

rs1479047646 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:63873756 (GRCh38)
20:62505109 (GRCh37)
Canonical SPDI:: NC_000020.11:63873755:C:T
Gene:: TPD52L2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.63873756C>T, NC_000020.10:g.62505109C>T, NG_029863.1:g.13529C>T, NM_003288.4:c.254C>T, NM_003288.3:c.254C>T, NM_199360.3:c.254C>T, NM_199360.2:c.254C>T, NM_199362.3:c.254C>T, NM_199362.2:c.254C>T, NM_199361.3:c.254C>T, NM_199361.2:c.254C>T, NM_199363.3:c.254C>T, NM_199363.2:c.254C>T, NM_199359.3:c.254C>T, NM_199359.2:c.254C>T, NR_045090.2:n.350C>T, NR_045090.1:n.392C>T, NM_001243895.2:c.254C>T, NM_001243895.1:c.254C>T, NM_001243891.2:c.179C>T, NM_001243891.1:c.179C>T, NM_001243892.2:c.185C>T, NM_001243892.1:c.185C>T, NM_001243894.2:c.254C>T, NM_001243894.1:c.254C>T, NP_003279.2:p.Thr85Ile, NP_955392.1:p.Thr85Ile, NP_955394.1:p.Thr85Ile, NP_955393.1:p.Thr85Ile, NP_955395.1:p.Thr85Ile, NP_955391.1:p.Thr85Ile, NP_001230824.1:p.Thr85Ile, NP_001230820.1:p.Thr60Ile, NP_001230821.1:p.Thr62Ile, NP_001230823.1:p.Thr85Ile

Select item 14778554846.

rs1477855484 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:63882725 (GRCh38)
20:62514078 (GRCh37)
Canonical SPDI:: NC_000020.11:63882724:G:T
Gene:: TPD52L2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.63882725G>T, NC_000020.10:g.62514078G>T, NG_029863.1:g.22498G>T, NM_003288.4:c.381G>T, NM_003288.3:c.381G>T, NM_199360.3:c.381G>T, NM_199360.2:c.381G>T, NM_199362.3:c.381G>T, NM_199362.2:c.381G>T, NM_199361.3:c.321G>T, NM_199361.2:c.321G>T, NM_199363.3:c.321G>T, NM_199363.2:c.321G>T, NM_199359.3:c.321G>T, NM_199359.2:c.321G>T, NM_001243895.2:c.381G>T, NM_001243895.1:c.381G>T, NM_001243891.2:c.306G>T, NM_001243891.1:c.306G>T, NM_001243892.2:c.252G>T, NM_001243892.1:c.252G>T, NP_003279.2:p.Lys127Asn, NP_955392.1:p.Lys127Asn, NP_955394.1:p.Lys127Asn, NP_955393.1:p.Lys107Asn, NP_955395.1:p.Lys107Asn, NP_955391.1:p.Lys107Asn, NP_001230824.1:p.Lys127Asn, NP_001230820.1:p.Lys102Asn, NP_001230821.1:p.Lys84Asn

Select item 14688292007.

rs1468829200 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 20:63865372 (GRCh38)
20:62496725 (GRCh37)
Canonical SPDI:: NC_000020.11:63865371:T:C,NC_000020.11:63865371:T:G
Gene:: TPD52L2 (Varview), LOC112268269 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.63865372T>C, NC_000020.11:g.63865372T>G, NC_000020.10:g.62496725T>C, NC_000020.10:g.62496725T>G, NG_029863.1:g.5145T>C, NG_029863.1:g.5145T>G, NM_003288.4:c.7T>C, NM_003288.4:c.7T>G, NM_003288.3:c.7T>C, NM_003288.3:c.7T>G, NM_199360.3:c.7T>C, NM_199360.3:c.7T>G, NM_199360.2:c.7T>C, NM_199360.2:c.7T>G, NM_199362.3:c.7T>C, NM_199362.3:c.7T>G, NM_199362.2:c.7T>C, NM_199362.2:c.7T>G, NM_199361.3:c.7T>C, NM_199361.3:c.7T>G, NM_199361.2:c.7T>C, NM_199361.2:c.7T>G, NM_199363.3:c.7T>C, NM_199363.3:c.7T>G, NM_199363.2:c.7T>C, NM_199363.2:c.7T>G, NM_199359.3:c.7T>C, NM_199359.3:c.7T>G, NM_199359.2:c.7T>C, NM_199359.2:c.7T>G, NR_045090.2:n.103T>C, NR_045090.2:n.103T>G, NR_045090.1:n.145T>C, NR_045090.1:n.145T>G, NM_001243895.2:c.7T>C, NM_001243895.2:c.7T>G, NM_001243895.1:c.7T>C, NM_001243895.1:c.7T>G, NM_001243891.2:c.7T>C, NM_001243891.2:c.7T>G, NM_001243891.1:c.7T>C, NM_001243891.1:c.7T>G, NM_001243892.2:c.7T>C, NM_001243892.2:c.7T>G, NM_001243892.1:c.7T>C, NM_001243892.1:c.7T>G, NM_001243894.2:c.7T>C, NM_001243894.2:c.7T>G, NM_001243894.1:c.7T>C, NM_001243894.1:c.7T>G, NP_003279.2:p.Ser3Pro, NP_003279.2:p.Ser3Ala, NP_955392.1:p.Ser3Pro, NP_955392.1:p.Ser3Ala, NP_955394.1:p.Ser3Pro, NP_955394.1:p.Ser3Ala, NP_955393.1:p.Ser3Pro, NP_955393.1:p.Ser3Ala, NP_955395.1:p.Ser3Pro, NP_955395.1:p.Ser3Ala, NP_955391.1:p.Ser3Pro, NP_955391.1:p.Ser3Ala, NP_001230824.1:p.Ser3Pro, NP_001230824.1:p.Ser3Ala, NP_001230820.1:p.Ser3Pro, NP_001230820.1:p.Ser3Ala, NP_001230821.1:p.Ser3Pro, NP_001230821.1:p.Ser3Ala, NP_001230823.1:p.Ser3Pro, NP_001230823.1:p.Ser3Ala

Select item 14683954048.

rs1468395404 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:63889942 (GRCh38)
20:62521295 (GRCh37)
Canonical SPDI:: NC_000020.11:63889941:C:T
Gene:: TPD52L2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.63889942C>T, NC_000020.10:g.62521295C>T, NG_029863.1:g.29715C>T, NM_003288.4:c.618C>T, NM_003288.3:c.618C>T, NM_199360.3:c.687C>T, NM_199360.2:c.687C>T, NM_199362.3:c.660C>T, NM_199362.2:c.660C>T, NM_199361.3:c.627C>T, NM_199361.2:c.627C>T, NM_199363.3:c.600C>T, NM_199363.2:c.600C>T, NM_199359.3:c.558C>T, NM_199359.2:c.558C>T, NR_045090.2:n.683C>T, NR_045090.1:n.725C>T, NM_001243895.2:c.569C>T, NM_001243895.1:c.569C>T, NM_001243891.2:c.543C>T, NM_001243891.1:c.543C>T, NM_001243892.2:c.489C>T, NM_001243892.1:c.489C>T, NM_001243894.2:c.456C>T, NM_001243894.1:c.456C>T, NP_001230824.1:p.Ser190Phe

Select item 14634315219.

rs1463431521 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:63869302 (GRCh38)
20:62500655 (GRCh37)
Canonical SPDI:: NC_000020.11:63869301:A:G
Gene:: TPD52L2 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.63869302A>G, NC_000020.10:g.62500655A>G, NG_029863.1:g.9075A>G, NM_003288.4:c.26A>G, NM_003288.3:c.26A>G, NM_199360.3:c.26A>G, NM_199360.2:c.26A>G, NM_199362.3:c.26A>G, NM_199362.2:c.26A>G, NM_199361.3:c.26A>G, NM_199361.2:c.26A>G, NM_199363.3:c.26A>G, NM_199363.2:c.26A>G, NM_199359.3:c.26A>G, NM_199359.2:c.26A>G, NR_045090.2:n.122A>G, NR_045090.1:n.164A>G, NM_001243895.2:c.26A>G, NM_001243895.1:c.26A>G, NM_001243891.2:c.26A>G, NM_001243891.1:c.26A>G, NM_001243894.2:c.26A>G, NM_001243894.1:c.26A>G, NP_003279.2:p.Asn9Ser, NP_955392.1:p.Asn9Ser, NP_955394.1:p.Asn9Ser, NP_955393.1:p.Asn9Ser, NP_955395.1:p.Asn9Ser, NP_955391.1:p.Asn9Ser, NP_001230824.1:p.Asn9Ser, NP_001230820.1:p.Asn9Ser, NP_001230823.1:p.Asn9Ser

Select item 146161285010.

rs1461612850 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 20:63869396 (GRCh38)
20:62500749 (GRCh37)
Canonical SPDI:: NC_000020.11:63869395:T:A
Gene:: TPD52L2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
HGVS:: NC_000020.11:g.63869396T>A, NC_000020.10:g.62500749T>A, NG_029863.1:g.9169T>A, NM_003288.4:c.120T>A, NM_003288.3:c.120T>A, NM_199360.3:c.120T>A, NM_199360.2:c.120T>A, NM_199362.3:c.120T>A, NM_199362.2:c.120T>A, NM_199361.3:c.120T>A, NM_199361.2:c.120T>A, NM_199363.3:c.120T>A, NM_199363.2:c.120T>A, NM_199359.3:c.120T>A, NM_199359.2:c.120T>A, NR_045090.2:n.216T>A, NR_045090.1:n.258T>A, NM_001243895.2:c.120T>A, NM_001243895.1:c.120T>A, NM_001243892.2:c.51T>A, NM_001243892.1:c.51T>A, NM_001243894.2:c.120T>A, NM_001243894.1:c.120T>A

Select item 145705812511.

rs1457058125 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:63887586 (GRCh38)
20:62518939 (GRCh37)
Canonical SPDI:: NC_000020.11:63887585:A:G
Gene:: TPD52L2 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.63887586A>G, NC_000020.10:g.62518939A>G, NG_029863.1:g.27359A>G, NM_199360.3:c.526A>G, NM_199360.2:c.526A>G, NM_199362.3:c.499A>G, NM_199362.2:c.499A>G, NM_199361.3:c.466A>G, NM_199361.2:c.466A>G, NM_199363.3:c.439A>G, NM_199363.2:c.439A>G, NP_955392.1:p.Ile176Val, NP_955394.1:p.Ile167Val, NP_955393.1:p.Ile156Val, NP_955395.1:p.Ile147Val

Select item 145283305812.

rs1452833058 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:63887579 (GRCh38)
20:62518932 (GRCh37)
Canonical SPDI:: NC_000020.11:63887578:C:T
Gene:: TPD52L2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.63887579C>T, NC_000020.10:g.62518932C>T, NG_029863.1:g.27352C>T, NM_199360.3:c.519C>T, NM_199360.2:c.519C>T, NM_199362.3:c.492C>T, NM_199362.2:c.492C>T, NM_199361.3:c.459C>T, NM_199361.2:c.459C>T, NM_199363.3:c.432C>T, NM_199363.2:c.432C>T

Select item 145060214813.

rs1450602148 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:63869402 (GRCh38)
20:62500755 (GRCh37)
Canonical SPDI:: NC_000020.11:63869401:A:G
Gene:: TPD52L2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000020.11:g.63869402A>G, NC_000020.10:g.62500755A>G, NG_029863.1:g.9175A>G, NM_003288.4:c.126A>G, NM_003288.3:c.126A>G, NM_199360.3:c.126A>G, NM_199360.2:c.126A>G, NM_199362.3:c.126A>G, NM_199362.2:c.126A>G, NM_199361.3:c.126A>G, NM_199361.2:c.126A>G, NM_199363.3:c.126A>G, NM_199363.2:c.126A>G, NM_199359.3:c.126A>G, NM_199359.2:c.126A>G, NR_045090.2:n.222A>G, NR_045090.1:n.264A>G, NM_001243895.2:c.126A>G, NM_001243895.1:c.126A>G, NM_001243892.2:c.57A>G, NM_001243892.1:c.57A>G, NM_001243894.2:c.126A>G, NM_001243894.1:c.126A>G

Select item 144781229814.

rs1447812298 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 20:63869397 (GRCh38)
20:62500751 (GRCh37)
Canonical SPDI:: NC_000020.11:63869397:T:TT
Gene:: TPD52L2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,frameshift_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.63869398dup, NC_000020.10:g.62500751dup, NG_029863.1:g.9171dup, NM_003288.4:c.122dup, NM_003288.3:c.122dup, NM_199360.3:c.122dup, NM_199360.2:c.122dup, NM_199362.3:c.122dup, NM_199362.2:c.122dup, NM_199361.3:c.122dup, NM_199361.2:c.122dup, NM_199363.3:c.122dup, NM_199363.2:c.122dup, NM_199359.3:c.122dup, NM_199359.2:c.122dup, NR_045090.2:n.218dup, NR_045090.1:n.260dup, NM_001243895.2:c.122dup, NM_001243895.1:c.122dup, NM_001243892.2:c.53dup, NM_001243892.1:c.53dup, NM_001243894.2:c.122dup, NM_001243894.1:c.122dup, NP_003279.2:p.Thr42fs, NP_955392.1:p.Thr42fs, NP_955394.1:p.Thr42fs, NP_955393.1:p.Thr42fs, NP_955395.1:p.Thr42fs, NP_955391.1:p.Thr42fs, NP_001230824.1:p.Thr42fs, NP_001230821.1:p.Thr19fs, NP_001230823.1:p.Thr42fs

Select item 144737829815.

rs1447378298 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:63869363 (GRCh38)
20:62500716 (GRCh37)
Canonical SPDI:: NC_000020.11:63869362:A:G
Gene:: TPD52L2 (Varview)
Functional Consequence:: splice_acceptor_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.63869363A>G, NC_000020.10:g.62500716A>G, NG_029863.1:g.9136A>G, NM_003288.4:c.87A>G, NM_003288.3:c.87A>G, NM_199360.3:c.87A>G, NM_199360.2:c.87A>G, NM_199362.3:c.87A>G, NM_199362.2:c.87A>G, NM_199361.3:c.87A>G, NM_199361.2:c.87A>G, NM_199363.3:c.87A>G, NM_199363.2:c.87A>G, NM_199359.3:c.87A>G, NM_199359.2:c.87A>G, NR_045090.2:n.183A>G, NR_045090.1:n.225A>G, NM_001243895.2:c.87A>G, NM_001243895.1:c.87A>G, NM_001243891.2:c.87A>G, NM_001243891.1:c.87A>G, NM_001243894.2:c.87A>G, NM_001243894.1:c.87A>G

Select item 144711670916.

rs1447116709 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:63889880 (GRCh38)
20:62521233 (GRCh37)
Canonical SPDI:: NC_000020.11:63889879:A:G
Gene:: TPD52L2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.63889880A>G, NC_000020.10:g.62521233A>G, NG_029863.1:g.29653A>G, NM_003288.4:c.556A>G, NM_003288.3:c.556A>G, NM_199360.3:c.625A>G, NM_199360.2:c.625A>G, NM_199362.3:c.598A>G, NM_199362.2:c.598A>G, NM_199361.3:c.565A>G, NM_199361.2:c.565A>G, NM_199363.3:c.538A>G, NM_199363.2:c.538A>G, NM_199359.3:c.496A>G, NM_199359.2:c.496A>G, NR_045090.2:n.621A>G, NR_045090.1:n.663A>G, NM_001243895.2:c.507A>G, NM_001243895.1:c.507A>G, NM_001243891.2:c.481A>G, NM_001243891.1:c.481A>G, NM_001243892.2:c.427A>G, NM_001243892.1:c.427A>G, NM_001243894.2:c.394A>G, NM_001243894.1:c.394A>G, NP_003279.2:p.Ser186Gly, NP_955392.1:p.Ser209Gly, NP_955394.1:p.Ser200Gly, NP_955393.1:p.Ser189Gly, NP_955395.1:p.Ser180Gly, NP_955391.1:p.Ser166Gly, NP_001230820.1:p.Ser161Gly, NP_001230821.1:p.Ser143Gly, NP_001230823.1:p.Ser132Gly

Select item 144145653917.

rs1441456539 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CC [Show Flanks]
Chromosome:: 20:63869373 (GRCh38)
20:62500727 (GRCh37)
Canonical SPDI:: NC_000020.11:63869373:CCC:CCCCC
Gene:: TPD52L2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,frameshift_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCC=0./0 (ALFA)
CC=0.000004/1 (TOPMED)
CC=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.63869375_63869376dup, NC_000020.10:g.62500728_62500729dup, NG_029863.1:g.9148_9149dup, NM_003288.4:c.99_100dup, NM_003288.3:c.99_100dup, NM_199360.3:c.99_100dup, NM_199360.2:c.99_100dup, NM_199362.3:c.99_100dup, NM_199362.2:c.99_100dup, NM_199361.3:c.99_100dup, NM_199361.2:c.99_100dup, NM_199363.3:c.99_100dup, NM_199363.2:c.99_100dup, NM_199359.3:c.99_100dup, NM_199359.2:c.99_100dup, NR_045090.2:n.195_196dup, NR_045090.1:n.237_238dup, NM_001243895.2:c.99_100dup, NM_001243895.1:c.99_100dup, NM_001243892.2:c.30_31dup, NM_001243892.1:c.30_31dup, NM_001243894.2:c.99_100dup, NM_001243894.1:c.99_100dup, NP_003279.2:p.Arg34fs, NP_955392.1:p.Arg34fs, NP_955394.1:p.Arg34fs, NP_955393.1:p.Arg34fs, NP_955395.1:p.Arg34fs, NP_955391.1:p.Arg34fs, NP_001230824.1:p.Arg34fs, NP_001230821.1:p.Arg11fs, NP_001230823.1:p.Arg34fs

Select item 143699960518.

rs1436999605 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:63889190 (GRCh38)
20:62520543 (GRCh37)
Canonical SPDI:: NC_000020.11:63889189:G:A
Gene:: TPD52L2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,intron_variant
HGVS:: NC_000020.11:g.63889190G>A, NC_000020.10:g.62520543G>A, NG_029863.1:g.28963G>A, NM_003288.4:c.477G>A, NM_003288.3:c.477G>A, NM_199360.3:c.546G>A, NM_199360.2:c.546G>A, NM_199362.3:c.519G>A, NM_199362.2:c.519G>A, NM_199361.3:c.486G>A, NM_199361.2:c.486G>A, NM_199363.3:c.459G>A, NM_199363.2:c.459G>A, NM_199359.3:c.417G>A, NM_199359.2:c.417G>A, NR_045090.2:n.542G>A, NR_045090.1:n.584G>A, NM_001243891.2:c.402G>A, NM_001243891.1:c.402G>A, NM_001243892.2:c.348G>A, NM_001243892.1:c.348G>A, NM_001243894.2:c.315G>A, NM_001243894.1:c.315G>A

Select item 142590771419.

rs1425907714 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:63873688 (GRCh38)
20:62505041 (GRCh37)
Canonical SPDI:: NC_000020.11:63873687:T:C
Gene:: TPD52L2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
HGVS:: NC_000020.11:g.63873688T>C, NC_000020.10:g.62505041T>C, NG_029863.1:g.13461T>C, NM_003288.4:c.186T>C, NM_003288.3:c.186T>C, NM_199360.3:c.186T>C, NM_199360.2:c.186T>C, NM_199362.3:c.186T>C, NM_199362.2:c.186T>C, NM_199361.3:c.186T>C, NM_199361.2:c.186T>C, NM_199363.3:c.186T>C, NM_199363.2:c.186T>C, NM_199359.3:c.186T>C, NM_199359.2:c.186T>C, NR_045090.2:n.282T>C, NR_045090.1:n.324T>C, NM_001243895.2:c.186T>C, NM_001243895.1:c.186T>C, NM_001243891.2:c.111T>C, NM_001243891.1:c.111T>C, NM_001243892.2:c.117T>C, NM_001243892.1:c.117T>C, NM_001243894.2:c.186T>C, NM_001243894.1:c.186T>C

Select item 142475904620.

rs1424759046 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:63869382 (GRCh38)
20:62500735 (GRCh37)
Canonical SPDI:: NC_000020.11:63869381:C:T
Gene:: TPD52L2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.63869382C>T, NC_000020.10:g.62500735C>T, NG_029863.1:g.9155C>T, NM_003288.4:c.106C>T, NM_003288.3:c.106C>T, NM_199360.3:c.106C>T, NM_199360.2:c.106C>T, NM_199362.3:c.106C>T, NM_199362.2:c.106C>T, NM_199361.3:c.106C>T, NM_199361.2:c.106C>T, NM_199363.3:c.106C>T, NM_199363.2:c.106C>T, NM_199359.3:c.106C>T, NM_199359.2:c.106C>T, NR_045090.2:n.202C>T, NR_045090.1:n.244C>T, NM_001243895.2:c.106C>T, NM_001243895.1:c.106C>T, NM_001243892.2:c.37C>T, NM_001243892.1:c.37C>T, NM_001243894.2:c.106C>T, NM_001243894.1:c.106C>T, NP_003279.2:p.Pro36Ser, NP_955392.1:p.Pro36Ser, NP_955394.1:p.Pro36Ser, NP_955393.1:p.Pro36Ser, NP_955395.1:p.Pro36Ser, NP_955391.1:p.Pro36Ser, NP_001230824.1:p.Pro36Ser, NP_001230821.1:p.Pro13Ser, NP_001230823.1:p.Pro36Ser

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Items: 1 to 20 of 213

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