Canonical Allele Identifier: CA413656186

Gene: SLC16A2

Linked Data

• dbSNP Id: rs1177004258
• gnomAD v2: X-73641770-G-A
• MyVariant Identifiers: chrX:g.73641770G>A (hg19) ; chrX:g.74421935G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.74421935G>A , CM000685.2:g.74421935G>A	GRCh38
NC_000023.10:g.73641770G>A , CM000685.1:g.73641770G>A	GRCh37
NC_000023.9:g.73558495G>A	NCBI36
NG_011641.1:g.5686G>A
NG_011641.2:g.5686G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000587091.6:c.298G>A MANE Select	ENSP00000465734.1:p.Gly100Ser
ENST00000636771.1:c.44G>A
ENST00000587091.5:c.298G>A	ENSP00000465734.1:p.Gly100Ser
NM_006517.4:c.298G>A	NP_006508.2:p.Gly100Ser
XM_005262294.1:c.298G>A	XP_005262351.1:p.Gly100Ser
XM_011531015.1:c.298G>A	XP_011529317.1:p.Gly100Ser
NM_006517.5:c.298G>A MANE Select	NP_006508.2:p.Gly100Ser