SNP Links for Protein (Select 42518068) - SNP

Links from Protein

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Select item 14907057021.

rs1490705702 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:85327176 (GRCh38)
2:85554299 (GRCh37)
Canonical SPDI:: NC_000002.12:85327175:C:T
Gene:: TGOLN2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.85327176C>T, NC_000002.11:g.85554299C>T, NG_030379.2:g.6121G>A, NM_006464.4:c.556G>A, NM_006464.3:c.556G>A, NM_001206840.2:c.556G>A, NM_001206840.1:c.556G>A, NM_001206841.2:c.556G>A, NM_001206841.1:c.556G>A, NM_001206844.2:c.556G>A, NM_001206844.1:c.556G>A, NM_001368095.1:c.556G>A, NM_001368096.1:c.556G>A, NW_025791763.1:g.253414C>T, NP_006455.2:p.Gly186Ser, NP_001193773.1:p.Gly186Ser, NP_001355024.1:p.Gly186Ser, NP_001355025.1:p.Gly186Ser

Select item 14888134442.

rs1488813444 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:85326616 (GRCh38)
2:85553739 (GRCh37)
Canonical SPDI:: NC_000002.12:85326615:C:T
Gene:: TGOLN2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.85326616C>T, NC_000002.11:g.85553739C>T, NG_030379.2:g.6681G>A, NM_006464.4:c.1116G>A, NM_006464.3:c.1116G>A, NM_001206840.2:c.1116G>A, NM_001206840.1:c.1116G>A, NM_001206841.2:c.1116G>A, NM_001206841.1:c.1116G>A, NM_001206844.2:c.942G>A, NM_001206844.1:c.942G>A, NM_001368095.1:c.1116G>A, NM_001368096.1:c.1116G>A, NW_025791763.1:g.252854C>T

Select item 14884559743.

rs1488455974 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:85327180 (GRCh38)
2:85554303 (GRCh37)
Canonical SPDI:: NC_000002.12:85327179:C:T
Gene:: TGOLN2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.85327180C>T, NC_000002.11:g.85554303C>T, NG_030379.2:g.6117G>A, NM_006464.4:c.552G>A, NM_006464.3:c.552G>A, NM_001206840.2:c.552G>A, NM_001206840.1:c.552G>A, NM_001206841.2:c.552G>A, NM_001206841.1:c.552G>A, NM_001206844.2:c.552G>A, NM_001206844.1:c.552G>A, NM_001368095.1:c.552G>A, NM_001368096.1:c.552G>A, NW_025791763.1:g.253418C>T

Select item 14866919654.

rs1486691965 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:85326557 (GRCh38)
2:85553680 (GRCh37)
Canonical SPDI:: NC_000002.12:85326556:G:A
Gene:: TGOLN2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.85326557G>A, NC_000002.11:g.85553680G>A, NG_030379.2:g.6740C>T, NM_006464.4:c.1175C>T, NM_006464.3:c.1175C>T, NM_001206840.2:c.1175C>T, NM_001206840.1:c.1175C>T, NM_001206841.2:c.1175C>T, NM_001206841.1:c.1175C>T, NM_001206844.2:c.1001C>T, NM_001206844.1:c.1001C>T, NM_001368095.1:c.1175C>T, NM_001368096.1:c.1175C>T, NW_025791763.1:g.252795G>A, NP_006455.2:p.Ala392Val, NP_001193773.1:p.Ala334Val, NP_001355024.1:p.Ala392Val, NP_001355025.1:p.Ala392Val

Select item 14848575235.

rs1484857523 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 2:85326742 (GRCh38)
2:85553865 (GRCh37)
Canonical SPDI:: NC_000002.12:85326741:A:C,NC_000002.12:85326741:A:G
Gene:: TGOLN2 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.85326742A>C, NC_000002.12:g.85326742A>G, NC_000002.11:g.85553865A>C, NC_000002.11:g.85553865A>G, NG_030379.2:g.6555T>G, NG_030379.2:g.6555T>C, NM_006464.4:c.990T>G, NM_006464.4:c.990T>C, NM_006464.3:c.990T>G, NM_006464.3:c.990T>C, NM_001206840.2:c.990T>G, NM_001206840.2:c.990T>C, NM_001206840.1:c.990T>G, NM_001206840.1:c.990T>C, NM_001206841.2:c.990T>G, NM_001206841.2:c.990T>C, NM_001206841.1:c.990T>G, NM_001206841.1:c.990T>C, NM_001206844.2:c.816T>G, NM_001206844.2:c.816T>C, NM_001206844.1:c.816T>G, NM_001206844.1:c.816T>C, NM_001368095.1:c.990T>G, NM_001368095.1:c.990T>C, NM_001368096.1:c.990T>G, NM_001368096.1:c.990T>C, NW_025791763.1:g.252980A>C, NW_025791763.1:g.252980A>G, NP_006455.2:p.Asp330Glu, NP_001193773.1:p.Asp272Glu, NP_001355024.1:p.Asp330Glu, NP_001355025.1:p.Asp330Glu

Select item 14827794446.

rs1482779444 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:85327950 (GRCh38)
2:85555073 (GRCh37)
Canonical SPDI:: NC_000002.12:85327949:C:T
Gene:: TGOLN2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.85327950C>T, NC_000002.11:g.85555073C>T, NG_030379.2:g.5347G>A, NM_006464.4:c.13G>A, NM_006464.3:c.13G>A, NM_001206840.2:c.13G>A, NM_001206840.1:c.13G>A, NM_001206841.2:c.13G>A, NM_001206841.1:c.13G>A, NM_001206844.2:c.13G>A, NM_001206844.1:c.13G>A, NM_001368095.1:c.13G>A, NM_001368096.1:c.13G>A, NW_025791763.1:g.254188C>T, NP_006455.2:p.Val5Ile, NP_001193773.1:p.Val5Ile, NP_001355024.1:p.Val5Ile, NP_001355025.1:p.Val5Ile

Select item 14787441757.

rs1478744175 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:85327257 (GRCh38)
2:85554380 (GRCh37)
Canonical SPDI:: NC_000002.12:85327256:T:C
Gene:: TGOLN2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.85327257T>C, NC_000002.11:g.85554380T>C, NG_030379.2:g.6040A>G, NM_006464.4:c.475A>G, NM_006464.3:c.475A>G, NM_001206840.2:c.475A>G, NM_001206840.1:c.475A>G, NM_001206841.2:c.475A>G, NM_001206841.1:c.475A>G, NM_001206844.2:c.475A>G, NM_001206844.1:c.475A>G, NM_001368095.1:c.475A>G, NM_001368096.1:c.475A>G, NW_025791763.1:g.253495T>C, NP_006455.2:p.Lys159Glu, NP_001193773.1:p.Lys159Glu, NP_001355024.1:p.Lys159Glu, NP_001355025.1:p.Lys159Glu

Select item 14781402588.

rs1478140258 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:85327282 (GRCh38)
2:85554405 (GRCh37)
Canonical SPDI:: NC_000002.12:85327281:G:C
Gene:: TGOLN2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000002.12:g.85327282G>C, NC_000002.11:g.85554405G>C, NG_030379.2:g.6015C>G, NM_006464.4:c.450C>G, NM_006464.3:c.450C>G, NM_001206840.2:c.450C>G, NM_001206840.1:c.450C>G, NM_001206841.2:c.450C>G, NM_001206841.1:c.450C>G, NM_001206844.2:c.450C>G, NM_001206844.1:c.450C>G, NM_001368095.1:c.450C>G, NM_001368096.1:c.450C>G, NW_025791763.1:g.253520G>C, NP_006455.2:p.Ser150Arg, NP_001193773.1:p.Ser150Arg, NP_001355024.1:p.Ser150Arg, NP_001355025.1:p.Ser150Arg

Select item 14723058329.

rs1472305832 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:85327348 (GRCh38)
2:85554471 (GRCh37)
Canonical SPDI:: NC_000002.12:85327347:C:G,NC_000002.12:85327347:C:T
Gene:: TGOLN2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.85327348C>G, NC_000002.12:g.85327348C>T, NC_000002.11:g.85554471C>G, NC_000002.11:g.85554471C>T, NG_030379.2:g.5949G>C, NG_030379.2:g.5949G>A, NM_006464.4:c.384G>C, NM_006464.4:c.384G>A, NM_006464.3:c.384G>C, NM_006464.3:c.384G>A, NM_001206840.2:c.384G>C, NM_001206840.2:c.384G>A, NM_001206840.1:c.384G>C, NM_001206840.1:c.384G>A, NM_001206841.2:c.384G>C, NM_001206841.2:c.384G>A, NM_001206841.1:c.384G>C, NM_001206841.1:c.384G>A, NM_001206844.2:c.384G>C, NM_001206844.2:c.384G>A, NM_001206844.1:c.384G>C, NM_001206844.1:c.384G>A, NM_001368095.1:c.384G>C, NM_001368095.1:c.384G>A, NM_001368096.1:c.384G>C, NM_001368096.1:c.384G>A, NW_025791763.1:g.253586C>G, NW_025791763.1:g.253586C>T

Select item 147045971410.

rs1470459714 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:85327661 (GRCh38)
2:85554784 (GRCh37)
Canonical SPDI:: NC_000002.12:85327660:T:G
Gene:: TGOLN2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.85327661T>G, NC_000002.11:g.85554784T>G, NG_030379.2:g.5636A>C, NM_006464.4:c.71A>C, NM_006464.3:c.71A>C, NM_001206840.2:c.71A>C, NM_001206840.1:c.71A>C, NM_001206841.2:c.71A>C, NM_001206841.1:c.71A>C, NM_001206844.2:c.71A>C, NM_001206844.1:c.71A>C, NM_001368095.1:c.71A>C, NM_001368096.1:c.71A>C, NW_025791763.1:g.253899T>G, NP_006455.2:p.Glu24Ala, NP_001193773.1:p.Glu24Ala, NP_001355024.1:p.Glu24Ala, NP_001355025.1:p.Glu24Ala

Select item 146860452211.

rs1468604522 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:85326646 (GRCh38)
2:85553769 (GRCh37)
Canonical SPDI:: NC_000002.12:85326645:G:A,NC_000002.12:85326645:G:T
Gene:: TGOLN2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.85326646G>A, NC_000002.12:g.85326646G>T, NC_000002.11:g.85553769G>A, NC_000002.11:g.85553769G>T, NG_030379.2:g.6651C>T, NG_030379.2:g.6651C>A, NM_006464.4:c.1086C>T, NM_006464.4:c.1086C>A, NM_006464.3:c.1086C>T, NM_006464.3:c.1086C>A, NM_001206840.2:c.1086C>T, NM_001206840.2:c.1086C>A, NM_001206840.1:c.1086C>T, NM_001206840.1:c.1086C>A, NM_001206841.2:c.1086C>T, NM_001206841.2:c.1086C>A, NM_001206841.1:c.1086C>T, NM_001206841.1:c.1086C>A, NM_001206844.2:c.912C>T, NM_001206844.2:c.912C>A, NM_001206844.1:c.912C>T, NM_001206844.1:c.912C>A, NM_001368095.1:c.1086C>T, NM_001368095.1:c.1086C>A, NM_001368096.1:c.1086C>T, NM_001368096.1:c.1086C>A, NW_025791763.1:g.252884G>A, NW_025791763.1:g.252884G>T

Select item 146724362312.

rs1467243623 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:85327648 (GRCh38)
2:85554771 (GRCh37)
Canonical SPDI:: NC_000002.12:85327647:T:C
Gene:: TGOLN2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.85327648T>C, NC_000002.11:g.85554771T>C, NG_030379.2:g.5649A>G, NM_006464.4:c.84A>G, NM_006464.3:c.84A>G, NM_001206840.2:c.84A>G, NM_001206840.1:c.84A>G, NM_001206841.2:c.84A>G, NM_001206841.1:c.84A>G, NM_001206844.2:c.84A>G, NM_001206844.1:c.84A>G, NM_001368095.1:c.84A>G, NM_001368096.1:c.84A>G, NW_025791763.1:g.253886T>C

Select item 146329992313.

rs1463299923 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 2:85326552 (GRCh38)
2:85553675 (GRCh37)
Canonical SPDI:: NC_000002.12:85326551:T:A,NC_000002.12:85326551:T:C
Gene:: TGOLN2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000056/2 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.85326552T>A, NC_000002.12:g.85326552T>C, NC_000002.11:g.85553675T>A, NC_000002.11:g.85553675T>C, NG_030379.2:g.6745A>T, NG_030379.2:g.6745A>G, NM_006464.4:c.1180A>T, NM_006464.4:c.1180A>G, NM_006464.3:c.1180A>T, NM_006464.3:c.1180A>G, NM_001206840.2:c.1180A>T, NM_001206840.2:c.1180A>G, NM_001206840.1:c.1180A>T, NM_001206840.1:c.1180A>G, NM_001206841.2:c.1180A>T, NM_001206841.2:c.1180A>G, NM_001206841.1:c.1180A>T, NM_001206841.1:c.1180A>G, NM_001206844.2:c.1006A>T, NM_001206844.2:c.1006A>G, NM_001206844.1:c.1006A>T, NM_001206844.1:c.1006A>G, NM_001368095.1:c.1180A>T, NM_001368095.1:c.1180A>G, NM_001368096.1:c.1180A>T, NM_001368096.1:c.1180A>G, NW_025791763.1:g.252790T>A, NW_025791763.1:g.252790T>C, NP_006455.2:p.Ile394Phe, NP_006455.2:p.Ile394Val, NP_001193773.1:p.Ile336Phe, NP_001193773.1:p.Ile336Val, NP_001355024.1:p.Ile394Phe, NP_001355024.1:p.Ile394Val, NP_001355025.1:p.Ile394Phe, NP_001355025.1:p.Ile394Val

Select item 146251927814.

rs1462519278 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:85327168 (GRCh38)
2:85554291 (GRCh37)
Canonical SPDI:: NC_000002.12:85327167:G:A,NC_000002.12:85327167:G:T
Gene:: TGOLN2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
HGVS:: NC_000002.12:g.85327168G>A, NC_000002.12:g.85327168G>T, NC_000002.11:g.85554291G>A, NC_000002.11:g.85554291G>T, NG_030379.2:g.6129C>T, NG_030379.2:g.6129C>A, NM_006464.4:c.564C>T, NM_006464.4:c.564C>A, NM_006464.3:c.564C>T, NM_006464.3:c.564C>A, NM_001206840.2:c.564C>T, NM_001206840.2:c.564C>A, NM_001206840.1:c.564C>T, NM_001206840.1:c.564C>A, NM_001206841.2:c.564C>T, NM_001206841.2:c.564C>A, NM_001206841.1:c.564C>T, NM_001206841.1:c.564C>A, NM_001206844.2:c.564C>T, NM_001206844.2:c.564C>A, NM_001206844.1:c.564C>T, NM_001206844.1:c.564C>A, NM_001368095.1:c.564C>T, NM_001368095.1:c.564C>A, NM_001368096.1:c.564C>T, NM_001368096.1:c.564C>A, NW_025791763.1:g.253406G>A, NW_025791763.1:g.253406G>T

Select item 145995481315.

rs1459954813 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:85327081 (GRCh38)
2:85554204 (GRCh37)
Canonical SPDI:: NC_000002.12:85327080:T:A
Gene:: TGOLN2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000002.12:g.85327081T>A, NC_000002.11:g.85554204T>A, NG_030379.2:g.6216A>T, NM_006464.4:c.651A>T, NM_006464.3:c.651A>T, NM_001206840.2:c.651A>T, NM_001206840.1:c.651A>T, NM_001206841.2:c.651A>T, NM_001206841.1:c.651A>T, NM_001206844.2:c.651A>T, NM_001206844.1:c.651A>T, NM_001368095.1:c.651A>T, NM_001368096.1:c.651A>T, NW_025791763.1:g.253319T>A

Select item 145707333716.

rs1457073337 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:85324930 (GRCh38)
2:85552053 (GRCh37)
Canonical SPDI:: NC_000002.12:85324929:T:C
Gene:: TGOLN2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000012/2 (GnomAD_exomes)
C=0.000019/5 (TOPMED)
HGVS:: NC_000002.12:g.85324930T>C, NC_000002.11:g.85552053T>C, NG_030379.2:g.8367A>G, NM_006464.4:c.1293A>G, NM_006464.3:c.1293A>G, NM_001206840.2:c.1293A>G, NM_001206840.1:c.1293A>G, NM_001206841.2:c.1293A>G, NM_001206841.1:c.1293A>G, NM_001206844.2:c.1119A>G, NM_001206844.1:c.1119A>G, NM_001368095.1:c.1293A>G, NM_001368096.1:c.1293A>G, NW_025791763.1:g.251168T>C

Select item 145681106817.

rs1456811068 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:85326978 (GRCh38)
2:85554101 (GRCh37)
Canonical SPDI:: NC_000002.12:85326977:C:G
Gene:: TGOLN2 (Varview)
Functional Consequence:: coding_sequence_variant,splice_donor_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.85326978C>G, NC_000002.11:g.85554101C>G, NG_030379.2:g.6319G>C, NM_006464.4:c.754G>C, NM_006464.3:c.754G>C, NM_001206840.2:c.754G>C, NM_001206840.1:c.754G>C, NM_001206841.2:c.754G>C, NM_001206841.1:c.754G>C, NM_001368095.1:c.754G>C, NM_001368096.1:c.754G>C, NW_025791763.1:g.253216C>G, NP_006455.2:p.Val252Leu, NP_001355024.1:p.Val252Leu, NP_001355025.1:p.Val252Leu

Select item 145396778418.

rs1453967784 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:85327012 (GRCh38)
2:85554135 (GRCh37)
Canonical SPDI:: NC_000002.12:85327011:C:T
Gene:: TGOLN2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.85327012C>T, NC_000002.11:g.85554135C>T, NG_030379.2:g.6285G>A, NM_006464.4:c.720G>A, NM_006464.3:c.720G>A, NM_001206840.2:c.720G>A, NM_001206840.1:c.720G>A, NM_001206841.2:c.720G>A, NM_001206841.1:c.720G>A, NM_001206844.2:c.720G>A, NM_001206844.1:c.720G>A, NM_001368095.1:c.720G>A, NM_001368096.1:c.720G>A, NW_025791763.1:g.253250C>T

Select item 145274329419.

rs1452743294 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:85327447 (GRCh38)
2:85554570 (GRCh37)
Canonical SPDI:: NC_000002.12:85327446:G:A,NC_000002.12:85327446:G:C
Gene:: TGOLN2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000002.12:g.85327447G>A, NC_000002.12:g.85327447G>C, NC_000002.11:g.85554570G>A, NC_000002.11:g.85554570G>C, NG_030379.2:g.5850C>T, NG_030379.2:g.5850C>G, NM_006464.4:c.285C>T, NM_006464.4:c.285C>G, NM_006464.3:c.285C>T, NM_006464.3:c.285C>G, NM_001206840.2:c.285C>T, NM_001206840.2:c.285C>G, NM_001206840.1:c.285C>T, NM_001206840.1:c.285C>G, NM_001206841.2:c.285C>T, NM_001206841.2:c.285C>G, NM_001206841.1:c.285C>T, NM_001206841.1:c.285C>G, NM_001206844.2:c.285C>T, NM_001206844.2:c.285C>G, NM_001206844.1:c.285C>T, NM_001206844.1:c.285C>G, NM_001368095.1:c.285C>T, NM_001368095.1:c.285C>G, NM_001368096.1:c.285C>T, NM_001368096.1:c.285C>G, NW_025791763.1:g.253685G>A, NW_025791763.1:g.253685G>C

Select item 145215824620.

rs1452158246 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:85327194 (GRCh38)
2:85554317 (GRCh37)
Canonical SPDI:: NC_000002.12:85327193:T:C
Gene:: TGOLN2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.85327194T>C, NC_000002.11:g.85554317T>C, NG_030379.2:g.6103A>G, NM_006464.4:c.538A>G, NM_006464.3:c.538A>G, NM_001206840.2:c.538A>G, NM_001206840.1:c.538A>G, NM_001206841.2:c.538A>G, NM_001206841.1:c.538A>G, NM_001206844.2:c.538A>G, NM_001206844.1:c.538A>G, NM_001368095.1:c.538A>G, NM_001368096.1:c.538A>G, NW_025791763.1:g.253432T>C, NP_006455.2:p.Asn180Asp, NP_001193773.1:p.Asn180Asp, NP_001355024.1:p.Asn180Asp, NP_001355025.1:p.Asn180Asp

dbSNP

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