Canonical Allele Identifier: CA255946
Gene: SLC16A2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 11632
ClinVar RCV Id: RCV000012398
dbSNP Id: rs104894931

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.74529355T>C , CM000685.2:g.74529355T>C GRCh38
NC_000023.10:g.73749190T>C , CM000685.1:g.73749190T>C GRCh37
NC_000023.9:g.73665915T>C NCBI36
NG_011641.1:g.113106T>C
NG_011641.2:g.113106T>C

Transcript Alleles

HGVS Amino-acid change
NM_006517.4:c.1313T>C VV NP_006508.2:p.Leu438Pro
XM_005262294.1:c.1171-1978T>C XP_005262351.1:p.=
NM_006517.5:c.1313T>C VV MANE Preferred
ENST00000587091.5:c.1313T>C ENSP00000465734.1:p.Leu438Pro
ENST00000590447.1:n.611-1978T>C