Canonical Allele Identifier: CA253671
Gene: SUCLA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 5977
ClinVar RCV Id: RCV000006343
dbSNP Id: rs121908537

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.47988901C>T , CM000675.2:g.47988901C>T GRCh38
NC_000013.10:g.48563036C>T , CM000675.1:g.48563036C>T GRCh37
NC_000013.9:g.47461037C>T NCBI36
NG_008241.1:g.17427G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000642944.1:c.178G>A ENSP00000495674.1:p.Gly60Arg
ENST00000643023.1:c.352G>A ENSP00000495664.1:p.Gly118Arg
ENST00000643584.1:c.352G>A ENSP00000494987.1:p.Gly118Arg
ENST00000644338.1:c.352G>A ENSP00000494723.1:p.Gly118Arg
ENST00000646602.1:c.352G>A ENSP00000495250.1:p.Gly118Arg
ENST00000646804.1:c.178G>A ENSP00000493977.1:p.Gly60Arg
ENST00000646932.1:c.352G>A MANE Select ENSP00000494360.1:p.Gly118Arg
ENST00000647361.1:c.*145G>A ENSP00000494607.1:n.*145G>A
ENST00000378654.8:c.352G>A ENSP00000367923.3:p.Gly118Arg
ENST00000433022.1:c.90+12279G>A ENSP00000415091.1:n.90+12279G>A
ENST00000434484.5:c.142G>A ENSP00000392771.1:p.Gly48Arg
ENST00000470760.2:c.352G>A ENSP00000488974.1:p.Gly118Arg
ENST00000497202.6:c.446G>A ENSP00000489175.1:n.446G>A
NM_003850.2:c.352G>A NP_003841.1:p.Gly118Arg
XM_011535292.1:c.115G>A XP_011533594.1:p.Gly39Arg
XM_011535293.1:c.-51G>A XP_011533595.1:n.-51G>A
XR_941688.1:n.396G>A
NM_003850.3:c.352G>A MANE Select NP_003841.1:p.Gly118Arg