Canonical Allele Identifier: CA642553565

Gene: SLC16A2

Linked Data

• dbSNP Id: rs1403224497
• gnomAD v2: X-73745537-T-C
• gnomAD v4: X-74525702-T-C
• MyVariant Identifiers: chrX:g.73745537T>C (hg19) ; chrX:g.74525702T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.74525702T>C , CM000685.2:g.74525702T>C	GRCh38
NC_000023.10:g.73745537T>C , CM000685.1:g.73745537T>C	GRCh37
NC_000023.9:g.73662262T>C	NCBI36
NG_011641.1:g.109453T>C
NG_011641.2:g.109453T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000587091.6:c.1027-48T>C MANE Select	ENSP00000465734.1:n.1027-48T>C
ENST00000636771.1:c.936-48T>C
ENST00000587091.5:c.1027-48T>C	ENSP00000465734.1:n.1027-48T>C
ENST00000590447.1:c.467-48T>C
NM_006517.4:c.1027-48T>C	NP_006508.2:n.1027-48T>C
XM_005262294.1:c.1027-48T>C	XP_005262351.1:n.1027-48T>C
XM_011531015.1:c.*31-48T>C	XP_011529317.1:n.*31-48T>C
NM_006517.5:c.1027-48T>C MANE Select	NP_006508.2:n.1027-48T>C