Canonical Allele Identifier: CA517242589

Gene: SLC16A2

Linked Data

• MyVariant Identifiers: chrX:g.73749072C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.74529237C>T , CM000685.2:g.74529237C>T	GRCh38
NC_000023.10:g.73749072C>T , CM000685.1:g.73749072C>T	GRCh37
NC_000023.9:g.73665797C>T	NCBI36
NG_011641.1:g.112988C>T
NG_011641.2:g.112988C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000587091.6:c.1195C>T MANE Select	ENSP00000465734.1:p.Leu399=
ENST00000636771.1:c.1104C>T
ENST00000587091.5:c.1195C>T	ENSP00000465734.1:p.Leu399=
ENST00000590447.1:c.611-2096C>T
NM_006517.4:c.1195C>T	NP_006508.2:p.Leu399=
XM_005262294.1:c.1171-2096C>T	XP_005262351.1:n.1171-2096C>T
NM_006517.5:c.1195C>T MANE Select	NP_006508.2:p.Leu399=