Canonical Allele Identifier: CA10454378

Gene: SLC16A2

Linked Data

• ClinVar Variation Id: 660972
• ClinVar RCV Id: RCV000818285 ; RCV003437438 ; RCV004028950
• dbSNP Id: rs756065515
• ExAC: X:73641620 G / A
• gnomAD v2: X-73641620-G-A
• gnomAD v3: X-74421785-G-A
• gnomAD v4: X-74421785-G-A
• MyVariant Identifiers: chrX:g.73641620G>A (hg19) ; chrX:g.74421785G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.74421785G>A , CM000685.2:g.74421785G>A	GRCh38
NC_000023.10:g.73641620G>A , CM000685.1:g.73641620G>A	GRCh37
NC_000023.9:g.73558345G>A	NCBI36
NG_011641.1:g.5536G>A
NG_011641.2:g.5536G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000587091.6:c.148G>A MANE Select	ENSP00000465734.1:p.Glu50Lys
ENST00000587091.5:c.148G>A	ENSP00000465734.1:p.Glu50Lys
NM_006517.4:c.148G>A	NP_006508.2:p.Glu50Lys
XM_005262294.1:c.148G>A	XP_005262351.1:p.Glu50Lys
XM_011531015.1:c.148G>A	XP_011529317.1:p.Glu50Lys
NM_006517.5:c.148G>A MANE Select	NP_006508.2:p.Glu50Lys