Canonical Allele Identifier: CA413656342

Gene: SLC16A2

Linked Data

• MyVariant Identifiers: chrX:g.73641840T>A (hg19) ; chrX:g.74422005T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.74422005T>A , CM000685.2:g.74422005T>A	GRCh38
NC_000023.10:g.73641840T>A , CM000685.1:g.73641840T>A	GRCh37
NC_000023.9:g.73558565T>A	NCBI36
NG_011641.1:g.5756T>A
NG_011641.2:g.5756T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000587091.6:c.368T>A MANE Select	ENSP00000465734.1:p.Ile123Asn
ENST00000636771.1:c.114T>A
ENST00000587091.5:c.368T>A	ENSP00000465734.1:p.Ile123Asn
NM_006517.4:c.368T>A	NP_006508.2:p.Ile123Asn
XM_005262294.1:c.368T>A	XP_005262351.1:p.Ile123Asn
XM_011531015.1:c.368T>A	XP_011529317.1:p.Ile123Asn
NM_006517.5:c.368T>A MANE Select	NP_006508.2:p.Ile123Asn