Canonical Allele Identifier: CA272493
Gene: SLC16A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 159906
ClinVar RCV Id: RCV000147498
dbSNP Id: rs587784386

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.74421914C>T , CM000685.2:g.74421914C>T GRCh38
NC_000023.10:g.73641749C>T , CM000685.1:g.73641749C>T GRCh37
NC_000023.9:g.73558474C>T NCBI36
NG_011641.1:g.5665C>T
NG_011641.2:g.5665C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000587091.6:c.277C>T MANE Select ENSP00000465734.1:p.Gln93Ter
ENST00000636771.1:c.23C>T
ENST00000587091.5:c.277C>T ENSP00000465734.1:p.Gln93Ter
NM_006517.4:c.277C>T NP_006508.2:p.Gln93Ter
XM_005262294.1:c.277C>T XP_005262351.1:p.Gln93Ter
XM_011531015.1:c.277C>T XP_011529317.1:p.Gln93Ter
NM_006517.5:c.277C>T MANE Select NP_006508.2:p.Gln93Ter