Canonical Allele Identifier: CA413658217

Gene: SLC16A2

Linked Data

• MyVariant Identifiers: chrX:g.73749076T>G (hg19) ; chrX:g.74529241T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.74529241T>G , CM000685.2:g.74529241T>G	GRCh38
NC_000023.10:g.73749076T>G , CM000685.1:g.73749076T>G	GRCh37
NC_000023.9:g.73665801T>G	NCBI36
NG_011641.1:g.112992T>G
NG_011641.2:g.112992T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000587091.6:c.1199T>G MANE Select	ENSP00000465734.1:p.Met400Arg
ENST00000636771.1:c.1108T>G
ENST00000587091.5:c.1199T>G	ENSP00000465734.1:p.Met400Arg
ENST00000590447.1:c.611-2092T>G
NM_006517.4:c.1199T>G	NP_006508.2:p.Met400Arg
XM_005262294.1:c.1171-2092T>G	XP_005262351.1:n.1171-2092T>G
NM_006517.5:c.1199T>G MANE Select	NP_006508.2:p.Met400Arg