Canonical Allele Identifier: CA517242599
Gene: SLC16A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.73749074G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.74529239G>C , CM000685.2:g.74529239G>C GRCh38
NC_000023.10:g.73749074G>C , CM000685.1:g.73749074G>C GRCh37
NC_000023.9:g.73665799G>C NCBI36
NG_011641.1:g.112990G>C
NG_011641.2:g.112990G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000587091.6:c.1197G>C MANE Select ENSP00000465734.1:p.Leu399=
ENST00000636771.1:c.1106G>C
ENST00000587091.5:c.1197G>C ENSP00000465734.1:p.Leu399=
ENST00000590447.1:c.611-2094G>C
NM_006517.4:c.1197G>C NP_006508.2:p.Leu399=
XM_005262294.1:c.1171-2094G>C XP_005262351.1:n.1171-2094G>C
NM_006517.5:c.1197G>C MANE Select NP_006508.2:p.Leu399=