SNP Links for Protein (Select 1034660099) - SNP

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Links from Protein

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Select item 14902253931.

rs1490225393 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 8:30635122 (GRCh38)
8:30492639 (GRCh37)
Canonical SPDI:: NC_000008.11:30635121:A:G,NC_000008.11:30635121:A:T
Gene:: GTF2E2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.30635122A>G, NC_000008.11:g.30635122A>T, NC_000008.10:g.30492639A>G, NC_000008.10:g.30492639A>T, NG_052833.1:g.28120T>C, NG_052833.1:g.28120T>A, NM_002095.6:c.168T>C, NM_002095.6:c.168T>A, NM_002095.5:c.168T>C, NM_002095.5:c.168T>A, NM_002095.4:c.168T>C, NM_002095.4:c.168T>A, NM_001348353.1:c.168T>C, NM_001348353.1:c.168T>A, XM_011544509.3:c.168T>C, XM_011544509.3:c.168T>A, XM_011544509.2:c.168T>C, XM_011544509.2:c.168T>A, XM_011544509.1:c.168T>C, XM_011544509.1:c.168T>A, XM_024447138.2:c.168T>C, XM_024447138.2:c.168T>A, XM_024447138.1:c.168T>C, XM_024447138.1:c.168T>A, XM_017013363.2:c.168T>C, XM_017013363.2:c.168T>A, XM_017013363.1:c.168T>C, XM_017013363.1:c.168T>A, XM_017013364.2:c.168T>C, XM_017013364.2:c.168T>A, XM_017013364.1:c.168T>C, XM_017013364.1:c.168T>A, XM_011544510.2:c.168T>C, XM_011544510.2:c.168T>A, XM_011544510.1:c.168T>C, XM_011544510.1:c.168T>A, NP_002086.1:p.Asp56Glu, NP_001335282.1:p.Asp56Glu, XP_011542811.1:p.Asp56Glu, XP_024302906.1:p.Asp56Glu, XP_016868852.1:p.Asp56Glu, XP_016868853.1:p.Asp56Glu, XP_011542812.1:p.Asp56Glu

Select item 14898491572.

rs1489849157 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:30607086 (GRCh38)
8:30464603 (GRCh37)
Canonical SPDI:: NC_000008.11:30607085:T:C
Gene:: GTF2E2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000008.11:g.30607086T>C, NC_000008.10:g.30464603T>C, NG_052833.1:g.56156A>G, NM_002095.6:c.614A>G, NM_002095.5:c.614A>G, NM_002095.4:c.614A>G, NM_001348353.1:c.614A>G, XM_011544509.3:c.614A>G, XM_011544509.2:c.614A>G, XM_011544509.1:c.614A>G, XM_024447138.2:c.614A>G, XM_024447138.1:c.614A>G, XM_017013363.2:c.614A>G, XM_017013363.1:c.614A>G, XM_017013364.2:c.614A>G, XM_017013364.1:c.614A>G, XM_011544510.2:c.614A>G, XM_011544510.1:c.614A>G, NP_002086.1:p.Asp205Gly, NP_001335282.1:p.Asp205Gly, XP_011542811.1:p.Asp205Gly, XP_024302906.1:p.Asp205Gly, XP_016868852.1:p.Asp205Gly, XP_016868853.1:p.Asp205Gly, XP_011542812.1:p.Asp205Gly

Select item 14808397663.

rs1480839766 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:30607094 (GRCh38)
8:30464611 (GRCh37)
Canonical SPDI:: NC_000008.11:30607093:G:A
Gene:: GTF2E2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.30607094G>A, NC_000008.10:g.30464611G>A, NG_052833.1:g.56148C>T, NM_002095.6:c.606C>T, NM_002095.5:c.606C>T, NM_002095.4:c.606C>T, NM_001348353.1:c.606C>T, XM_011544509.3:c.606C>T, XM_011544509.2:c.606C>T, XM_011544509.1:c.606C>T, XM_024447138.2:c.606C>T, XM_024447138.1:c.606C>T, XM_017013363.2:c.606C>T, XM_017013363.1:c.606C>T, XM_017013364.2:c.606C>T, XM_017013364.1:c.606C>T, XM_011544510.2:c.606C>T, XM_011544510.1:c.606C>T

Select item 14802385314.

rs1480238531 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:30635036 (GRCh38)
8:30492553 (GRCh37)
Canonical SPDI:: NC_000008.11:30635035:A:C
Gene:: GTF2E2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.30635036A>C, NC_000008.10:g.30492553A>C, NG_052833.1:g.28206T>G, NM_002095.6:c.254T>G, NM_002095.5:c.254T>G, NM_002095.4:c.254T>G, NM_001348353.1:c.254T>G, XM_011544509.3:c.254T>G, XM_011544509.2:c.254T>G, XM_011544509.1:c.254T>G, XM_024447138.2:c.254T>G, XM_024447138.1:c.254T>G, XM_017013363.2:c.254T>G, XM_017013363.1:c.254T>G, XM_017013364.2:c.254T>G, XM_017013364.1:c.254T>G, XM_011544510.2:c.254T>G, XM_011544510.1:c.254T>G, NP_002086.1:p.Met85Arg, NP_001335282.1:p.Met85Arg, XP_011542811.1:p.Met85Arg, XP_024302906.1:p.Met85Arg, XP_016868852.1:p.Met85Arg, XP_016868853.1:p.Met85Arg, XP_011542812.1:p.Met85Arg

Select item 14798719485.

rs1479871948 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 8:30614635 (GRCh38)
8:30472152 (GRCh37)
Canonical SPDI:: NC_000008.11:30614634:G:A,NC_000008.11:30614634:G:C
Gene:: GTF2E2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
C=0.000035/1 (TOMMO)
HGVS:: NC_000008.11:g.30614635G>A, NC_000008.11:g.30614635G>C, NC_000008.10:g.30472152G>A, NC_000008.10:g.30472152G>C, NG_052833.1:g.48607C>T, NG_052833.1:g.48607C>G, NM_002095.6:c.339C>T, NM_002095.6:c.339C>G, NM_002095.5:c.339C>T, NM_002095.5:c.339C>G, NM_002095.4:c.339C>T, NM_002095.4:c.339C>G, NM_001348353.1:c.339C>T, NM_001348353.1:c.339C>G, XM_011544509.3:c.339C>T, XM_011544509.3:c.339C>G, XM_011544509.2:c.339C>T, XM_011544509.2:c.339C>G, XM_011544509.1:c.339C>T, XM_011544509.1:c.339C>G, XM_024447138.2:c.339C>T, XM_024447138.2:c.339C>G, XM_024447138.1:c.339C>T, XM_024447138.1:c.339C>G, XM_017013363.2:c.339C>T, XM_017013363.2:c.339C>G, XM_017013363.1:c.339C>T, XM_017013363.1:c.339C>G, XM_017013364.2:c.339C>T, XM_017013364.2:c.339C>G, XM_017013364.1:c.339C>T, XM_017013364.1:c.339C>G, XM_011544510.2:c.339C>T, XM_011544510.2:c.339C>G, XM_011544510.1:c.339C>T, XM_011544510.1:c.339C>G

Select item 14708066256.

rs1470806625 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:30612340 (GRCh38)
8:30469857 (GRCh37)
Canonical SPDI:: NC_000008.11:30612339:C:T
Gene:: GTF2E2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.30612340C>T, NC_000008.10:g.30469857C>T, NG_052833.1:g.50902G>A, NM_002095.6:c.508G>A, NM_002095.5:c.508G>A, NM_002095.4:c.508G>A, NM_001348353.1:c.508G>A, XM_011544509.3:c.508G>A, XM_011544509.2:c.508G>A, XM_011544509.1:c.508G>A, XM_024447138.2:c.508G>A, XM_024447138.1:c.508G>A, XM_017013363.2:c.508G>A, XM_017013363.1:c.508G>A, XM_017013364.2:c.508G>A, XM_017013364.1:c.508G>A, XM_011544510.2:c.508G>A, XM_011544510.1:c.508G>A, NP_002086.1:p.Asp170Asn, NP_001335282.1:p.Asp170Asn, XP_011542811.1:p.Asp170Asn, XP_024302906.1:p.Asp170Asn, XP_016868852.1:p.Asp170Asn, XP_016868853.1:p.Asp170Asn, XP_011542812.1:p.Asp170Asn

Select item 14694131757.

rs1469413175 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:30580369 (GRCh38)
8:30437886 (GRCh37)
Canonical SPDI:: NC_000008.11:30580368:G:C
Gene:: GTF2E2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.30580369G>C, NC_000008.10:g.30437886G>C, NG_052833.1:g.82873C>G, NM_002095.6:c.671C>G, NM_002095.5:c.671C>G, NM_002095.4:c.671C>G, XM_024447138.2:c.671C>G, XM_024447138.1:c.671C>G, XM_017013363.2:c.671C>G, XM_017013363.1:c.671C>G, XM_017013364.2:c.671C>G, XM_017013364.1:c.671C>G, NP_002086.1:p.Thr224Ser, XP_024302906.1:p.Thr224Ser, XP_016868852.1:p.Thr224Ser, XP_016868853.1:p.Thr224Ser

Select item 14670329478.

rs1467032947 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:30653460 (GRCh38)
8:30510977 (GRCh37)
Canonical SPDI:: NC_000008.11:30653459:C:T
Gene:: GTF2E2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000038/10 (TOPMED)
T=0.000057/8 (GnomAD)
HGVS:: NC_000008.11:g.30653460C>T, NC_000008.10:g.30510977C>T, NG_052833.1:g.9782G>A, NM_002095.6:c.139G>A, NM_002095.5:c.139G>A, NM_002095.4:c.139G>A, NM_001348353.1:c.139G>A, XM_011544509.3:c.139G>A, XM_011544509.2:c.139G>A, XM_011544509.1:c.139G>A, XM_024447138.2:c.139G>A, XM_024447138.1:c.139G>A, XM_017013363.2:c.139G>A, XM_017013363.1:c.139G>A, XM_017013364.2:c.139G>A, XM_017013364.1:c.139G>A, XM_011544510.2:c.139G>A, XM_011544510.1:c.139G>A, NP_002086.1:p.Gly47Arg, NP_001335282.1:p.Gly47Arg, XP_011542811.1:p.Gly47Arg, XP_024302906.1:p.Gly47Arg, XP_016868852.1:p.Gly47Arg, XP_016868853.1:p.Gly47Arg, XP_011542812.1:p.Gly47Arg

Select item 14496715089.

rs1449671508 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:30614622 (GRCh38)
8:30472139 (GRCh37)
Canonical SPDI:: NC_000008.11:30614621:A:C
Gene:: GTF2E2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000021/3 (GnomAD)
HGVS:: NC_000008.11:g.30614622A>C, NC_000008.10:g.30472139A>C, NG_052833.1:g.48620T>G, NM_002095.6:c.352T>G, NM_002095.5:c.352T>G, NM_002095.4:c.352T>G, NM_001348353.1:c.352T>G, XM_011544509.3:c.352T>G, XM_011544509.2:c.352T>G, XM_011544509.1:c.352T>G, XM_024447138.2:c.352T>G, XM_024447138.1:c.352T>G, XM_017013363.2:c.352T>G, XM_017013363.1:c.352T>G, XM_017013364.2:c.352T>G, XM_017013364.1:c.352T>G, XM_011544510.2:c.352T>G, XM_011544510.1:c.352T>G, NP_002086.1:p.Trp118Gly, NP_001335282.1:p.Trp118Gly, XP_011542811.1:p.Trp118Gly, XP_024302906.1:p.Trp118Gly, XP_016868852.1:p.Trp118Gly, XP_016868853.1:p.Trp118Gly, XP_011542812.1:p.Trp118Gly

Select item 144517563010.

rs1445175630 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 8:30578936 (GRCh38)
8:30436453 (GRCh37)
Canonical SPDI:: NC_000008.11:30578935:AA:A
Gene:: GTF2E2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000035/1 (TOMMO)
HGVS:: NC_000008.11:g.30578937del, NC_000008.10:g.30436454del, NG_052833.1:g.84306del, NM_002095.6:c.861del, NM_002095.5:c.861del, NM_002095.4:c.861del, XM_024447138.2:c.861del, XM_024447138.1:c.861del, XM_017013363.2:c.861del, XM_017013363.1:c.861del, XM_017013364.2:c.861del, XM_017013364.1:c.861del, NP_002086.1:p.Thr288fs, XP_024302906.1:p.Thr288fs, XP_016868852.1:p.Thr288fs, XP_016868853.1:p.Thr288fs

Select item 144394975111.

rs1443949751 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:30653442 (GRCh38)
8:30510959 (GRCh37)
Canonical SPDI:: NC_000008.11:30653441:G:C
Gene:: GTF2E2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.30653442G>C, NC_000008.10:g.30510959G>C, NG_052833.1:g.9800C>G, NM_002095.6:c.157C>G, NM_002095.5:c.157C>G, NM_002095.4:c.157C>G, NM_001348353.1:c.157C>G, XM_011544509.3:c.157C>G, XM_011544509.2:c.157C>G, XM_011544509.1:c.157C>G, XM_024447138.2:c.157C>G, XM_024447138.1:c.157C>G, XM_017013363.2:c.157C>G, XM_017013363.1:c.157C>G, XM_017013364.2:c.157C>G, XM_017013364.1:c.157C>G, XM_011544510.2:c.157C>G, XM_011544510.1:c.157C>G, NP_002086.1:p.Gln53Glu, NP_001335282.1:p.Gln53Glu, XP_011542811.1:p.Gln53Glu, XP_024302906.1:p.Gln53Glu, XP_016868852.1:p.Gln53Glu, XP_016868853.1:p.Gln53Glu, XP_011542812.1:p.Gln53Glu

Select item 144385402212.

rs1443854022 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:30614698 (GRCh38)
8:30472215 (GRCh37)
Canonical SPDI:: NC_000008.11:30614697:T:G
Gene:: GTF2E2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.30614698T>G, NC_000008.10:g.30472215T>G, NG_052833.1:g.48544A>C, NM_002095.6:c.276A>C, NM_002095.5:c.276A>C, NM_002095.4:c.276A>C, NM_001348353.1:c.276A>C, XM_011544509.3:c.276A>C, XM_011544509.2:c.276A>C, XM_011544509.1:c.276A>C, XM_024447138.2:c.276A>C, XM_024447138.1:c.276A>C, XM_017013363.2:c.276A>C, XM_017013363.1:c.276A>C, XM_017013364.2:c.276A>C, XM_017013364.1:c.276A>C, XM_011544510.2:c.276A>C, XM_011544510.1:c.276A>C

Select item 144088592013.

rs1440885920 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:30607126 (GRCh38)
8:30464643 (GRCh37)
Canonical SPDI:: NC_000008.11:30607125:C:T
Gene:: GTF2E2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.0001/1 (ALFA)
HGVS:: NC_000008.11:g.30607126C>T, NC_000008.10:g.30464643C>T, NG_052833.1:g.56116G>A, NM_002095.6:c.574G>A, NM_002095.5:c.574G>A, NM_002095.4:c.574G>A, NM_001348353.1:c.574G>A, XM_011544509.3:c.574G>A, XM_011544509.2:c.574G>A, XM_011544509.1:c.574G>A, XM_024447138.2:c.574G>A, XM_024447138.1:c.574G>A, XM_017013363.2:c.574G>A, XM_017013363.1:c.574G>A, XM_017013364.2:c.574G>A, XM_017013364.1:c.574G>A, XM_011544510.2:c.574G>A, XM_011544510.1:c.574G>A, NP_002086.1:p.Val192Ile, NP_001335282.1:p.Val192Ile, XP_011542811.1:p.Val192Ile, XP_024302906.1:p.Val192Ile, XP_016868852.1:p.Val192Ile, XP_016868853.1:p.Val192Ile, XP_011542812.1:p.Val192Ile

Select item 142523065414.

rs1425230654 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 8:30579035 (GRCh38)
8:30436552 (GRCh37)
Canonical SPDI:: NC_000008.11:30579034:G:A,NC_000008.11:30579034:G:T
Gene:: GTF2E2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by cluster
HGVS:: NC_000008.11:g.30579035G>A, NC_000008.11:g.30579035G>T, NC_000008.10:g.30436552G>A, NC_000008.10:g.30436552G>T, NG_052833.1:g.84207C>T, NG_052833.1:g.84207C>A, NM_002095.6:c.762C>T, NM_002095.6:c.762C>A, NM_002095.5:c.762C>T, NM_002095.5:c.762C>A, NM_002095.4:c.762C>T, NM_002095.4:c.762C>A, XM_024447138.2:c.762C>T, XM_024447138.2:c.762C>A, XM_024447138.1:c.762C>T, XM_024447138.1:c.762C>A, XM_017013363.2:c.762C>T, XM_017013363.2:c.762C>A, XM_017013363.1:c.762C>T, XM_017013363.1:c.762C>A, XM_017013364.2:c.762C>T, XM_017013364.2:c.762C>A, XM_017013364.1:c.762C>T, XM_017013364.1:c.762C>A

Select item 142474322815.

rs1424743228 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TAC [Show Flanks]
Chromosome:: 8:30653531 (GRCh38)
8:30511049 (GRCh37)
Canonical SPDI:: NC_000008.11:30653531:CTACTAC:CTACTACTAC
Gene:: GTF2E2 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_insertion
Validated:: by frequency
MAF:: CTA=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.30653533TAC[3], NC_000008.10:g.30511050TAC[3], NG_052833.1:g.9705TAG[3], NM_002095.6:c.62TAG[3], NM_002095.5:c.62TAG[3], NM_002095.4:c.62TAG[3], NM_001348353.1:c.62TAG[3], XM_011544509.3:c.62TAG[3], XM_011544509.2:c.62TAG[3], XM_011544509.1:c.62TAG[3], XM_024447138.2:c.62TAG[3], XM_024447138.1:c.62TAG[3], XM_017013363.2:c.62TAG[3], XM_017013363.1:c.62TAG[3], XM_017013364.2:c.62TAG[3], XM_017013364.1:c.62TAG[3], XM_011544510.2:c.62TAG[3], XM_011544510.1:c.62TAG[3], NP_002086.1:p.Val22dup, NP_001335282.1:p.Val22dup, XP_011542811.1:p.Val22dup, XP_024302906.1:p.Val22dup, XP_016868852.1:p.Val22dup, XP_016868853.1:p.Val22dup, XP_011542812.1:p.Val22dup

Select item 142330802916.

rs1423308029 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:30607116 (GRCh38)
8:30464633 (GRCh37)
Canonical SPDI:: NC_000008.11:30607115:G:C
Gene:: GTF2E2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.30607116G>C, NC_000008.10:g.30464633G>C, NG_052833.1:g.56126C>G, NM_002095.6:c.584C>G, NM_002095.5:c.584C>G, NM_002095.4:c.584C>G, NM_001348353.1:c.584C>G, XM_011544509.3:c.584C>G, XM_011544509.2:c.584C>G, XM_011544509.1:c.584C>G, XM_024447138.2:c.584C>G, XM_024447138.1:c.584C>G, XM_017013363.2:c.584C>G, XM_017013363.1:c.584C>G, XM_017013364.2:c.584C>G, XM_017013364.1:c.584C>G, XM_011544510.2:c.584C>G, XM_011544510.1:c.584C>G, NP_002086.1:p.Pro195Arg, NP_001335282.1:p.Pro195Arg, XP_011542811.1:p.Pro195Arg, XP_024302906.1:p.Pro195Arg, XP_016868852.1:p.Pro195Arg, XP_016868853.1:p.Pro195Arg, XP_011542812.1:p.Pro195Arg

Select item 142101206817.

rs1421012068 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 8:30612319 (GRCh38)
8:30469836 (GRCh37)
Canonical SPDI:: NC_000008.11:30612318:T:C,NC_000008.11:30612318:T:G
Gene:: GTF2E2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.30612319T>C, NC_000008.11:g.30612319T>G, NC_000008.10:g.30469836T>C, NC_000008.10:g.30469836T>G, NG_052833.1:g.50923A>G, NG_052833.1:g.50923A>C, NM_002095.6:c.529A>G, NM_002095.6:c.529A>C, NM_002095.5:c.529A>G, NM_002095.5:c.529A>C, NM_002095.4:c.529A>G, NM_002095.4:c.529A>C, NM_001348353.1:c.529A>G, NM_001348353.1:c.529A>C, XM_011544509.3:c.529A>G, XM_011544509.3:c.529A>C, XM_011544509.2:c.529A>G, XM_011544509.2:c.529A>C, XM_011544509.1:c.529A>G, XM_011544509.1:c.529A>C, XM_024447138.2:c.529A>G, XM_024447138.2:c.529A>C, XM_024447138.1:c.529A>G, XM_024447138.1:c.529A>C, XM_017013363.2:c.529A>G, XM_017013363.2:c.529A>C, XM_017013363.1:c.529A>G, XM_017013363.1:c.529A>C, XM_017013364.2:c.529A>G, XM_017013364.2:c.529A>C, XM_017013364.1:c.529A>G, XM_017013364.1:c.529A>C, XM_011544510.2:c.529A>G, XM_011544510.2:c.529A>C, XM_011544510.1:c.529A>G, XM_011544510.1:c.529A>C, NP_002086.1:p.Asn177Asp, NP_002086.1:p.Asn177His, NP_001335282.1:p.Asn177Asp, NP_001335282.1:p.Asn177His, XP_011542811.1:p.Asn177Asp, XP_011542811.1:p.Asn177His, XP_024302906.1:p.Asn177Asp, XP_024302906.1:p.Asn177His, XP_016868852.1:p.Asn177Asp, XP_016868852.1:p.Asn177His, XP_016868853.1:p.Asn177Asp, XP_016868853.1:p.Asn177His, XP_011542812.1:p.Asn177Asp, XP_011542812.1:p.Asn177His

Select item 141684805618.

rs1416848056 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:30578992 (GRCh38)
8:30436509 (GRCh37)
Canonical SPDI:: NC_000008.11:30578991:G:A
Gene:: GTF2E2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000378/7 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000034/9 (TOPMED)
A=0.00005/7 (GnomAD)
A=0.001563/7 (Estonian)
HGVS:: NC_000008.11:g.30578992G>A, NC_000008.10:g.30436509G>A, NG_052833.1:g.84250C>T, NM_002095.6:c.805C>T, NM_002095.5:c.805C>T, NM_002095.4:c.805C>T, XM_024447138.2:c.805C>T, XM_024447138.1:c.805C>T, XM_017013363.2:c.805C>T, XM_017013363.1:c.805C>T, XM_017013364.2:c.805C>T, XM_017013364.1:c.805C>T, NP_002086.1:p.Arg269Cys, XP_024302906.1:p.Arg269Cys, XP_016868852.1:p.Arg269Cys, XP_016868853.1:p.Arg269Cys

Select item 141550713819.

rs1415507138 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:30653568 (GRCh38)
8:30511085 (GRCh37)
Canonical SPDI:: NC_000008.11:30653567:G:A
Gene:: GTF2E2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000008.11:g.30653568G>A, NC_000008.10:g.30511085G>A, NG_052833.1:g.9674C>T, NM_002095.6:c.31C>T, NM_002095.5:c.31C>T, NM_002095.4:c.31C>T, NM_001348353.1:c.31C>T, XM_011544509.3:c.31C>T, XM_011544509.2:c.31C>T, XM_011544509.1:c.31C>T, XM_024447138.2:c.31C>T, XM_024447138.1:c.31C>T, XM_017013363.2:c.31C>T, XM_017013363.1:c.31C>T, XM_017013364.2:c.31C>T, XM_017013364.1:c.31C>T, XM_011544510.2:c.31C>T, XM_011544510.1:c.31C>T

Select item 141423355820.

rs1414233558 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:30607081 (GRCh38)
8:30464598 (GRCh37)
Canonical SPDI:: NC_000008.11:30607080:T:C
Gene:: GTF2E2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.30607081T>C, NC_000008.10:g.30464598T>C, NG_052833.1:g.56161A>G, NM_002095.6:c.619A>G, NM_002095.5:c.619A>G, NM_002095.4:c.619A>G, NM_001348353.1:c.619A>G, XM_011544509.3:c.619A>G, XM_011544509.2:c.619A>G, XM_011544509.1:c.619A>G, XM_024447138.2:c.619A>G, XM_024447138.1:c.619A>G, XM_017013363.2:c.619A>G, XM_017013363.1:c.619A>G, XM_017013364.2:c.619A>G, XM_017013364.1:c.619A>G, XM_011544510.2:c.619A>G, XM_011544510.1:c.619A>G, NP_002086.1:p.Ser207Gly, NP_001335282.1:p.Ser207Gly, XP_011542811.1:p.Ser207Gly, XP_024302906.1:p.Ser207Gly, XP_016868852.1:p.Ser207Gly, XP_016868853.1:p.Ser207Gly, XP_011542812.1:p.Ser207Gly

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