Canonical Allele Identifier: CA255947
Gene: SLC16A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 11636
dbSNP Id: rs122455132

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.74529232T>C , CM000685.2:g.74529232T>C GRCh38
NC_000023.10:g.73749067T>C , CM000685.1:g.73749067T>C GRCh37
NC_000023.9:g.73665792T>C NCBI36
NG_011641.1:g.112983T>C
NG_011641.2:g.112983T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000587091.6:c.1190T>C MANE Select ENSP00000465734.1:p.Leu397Pro
ENST00000636771.1:c.1099T>C
ENST00000587091.5:c.1190T>C ENSP00000465734.1:p.Leu397Pro
ENST00000590447.1:c.611-2101T>C
NM_006517.4:c.1190T>C NP_006508.2:p.Leu397Pro
XM_005262294.1:c.1171-2101T>C XP_005262351.1:n.1171-2101T>C
NM_006517.5:c.1190T>C MANE Select NP_006508.2:p.Leu397Pro