Canonical Allele Identifier: CA517464318
Gene: SLC16A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1621399
ClinVar RCV Id: RCV002101683
dbSNP Id: rs2147833962
MyVariant Identifiers: chrX:g.73641643C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.74421808C>G , CM000685.2:g.74421808C>G GRCh38
NC_000023.10:g.73641643C>G , CM000685.1:g.73641643C>G GRCh37
NC_000023.9:g.73558368C>G NCBI36
NG_011641.1:g.5559C>G
NG_011641.2:g.5559C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000587091.6:c.171C>G MANE Select ENSP00000465734.1:p.Pro57=
ENST00000587091.5:c.171C>G ENSP00000465734.1:p.Pro57=
NM_006517.4:c.171C>G NP_006508.2:p.Pro57=
XM_005262294.1:c.171C>G XP_005262351.1:p.Pro57=
XM_011531015.1:c.171C>G XP_011529317.1:p.Pro57=
NM_006517.5:c.171C>G MANE Select NP_006508.2:p.Pro57=
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