Canonical Allele Identifier: CA10454385
Gene: SLC16A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 509599
ClinVar RCV Id: RCV000601933
dbSNP Id: rs773394262
ExAC: X:73641697 C / T
gnomAD v2: X-73641697-C-T
gnomAD v4: X-74421862-C-T
MyVariant Identifiers: chrX:g.73641697C>T (hg19) chrX:g.74421862C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.74421862C>T , CM000685.2:g.74421862C>T GRCh38
NC_000023.10:g.73641697C>T , CM000685.1:g.73641697C>T GRCh37
NC_000023.9:g.73558422C>T NCBI36
NG_011641.1:g.5613C>T
NG_011641.2:g.5613C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000587091.6:c.225C>T MANE Select ENSP00000465734.1:p.His75=
ENST00000587091.5:c.225C>T ENSP00000465734.1:p.His75=
NM_006517.4:c.225C>T NP_006508.2:p.His75=
XM_005262294.1:c.225C>T XP_005262351.1:p.His75=
XM_011531015.1:c.225C>T XP_011529317.1:p.His75=
NM_006517.5:c.225C>T MANE Select NP_006508.2:p.His75=
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