Canonical Allele Identifier: CA174523
Gene: SLC16A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 161647
ClinVar RCV Id: RCV000149183
dbSNP Id: rs193920756

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.74531384G>T , CM000685.2:g.74531384G>T GRCh38
NC_000023.10:g.73751219G>T , CM000685.1:g.73751219G>T GRCh37
NC_000023.9:g.73667944G>T NCBI36
NG_011641.1:g.115135G>T
NG_011641.2:g.115135G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000587091.6:c.1451G>T MANE Select ENSP00000465734.1:p.Gly484Val
ENST00000636771.1:c.1360G>T
ENST00000587091.5:c.1451G>T ENSP00000465734.1:p.Gly484Val
ENST00000590447.1:c.662G>T
NM_006517.4:c.1451G>T NP_006508.2:p.Gly484Val
XM_005262294.1:c.1222G>T XP_005262351.1:p.Val408Leu
NM_006517.5:c.1451G>T MANE Select NP_006508.2:p.Gly484Val