Canonical Allele Identifier: CA388151643

Gene: SUCLA2

Linked Data

• MyVariant Identifiers: chr13:g.48563088C>G (hg19) ; chr13:g.47988953C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.47988953C>G , CM000675.2:g.47988953C>G	GRCh38
NC_000013.10:g.48563088C>G , CM000675.1:g.48563088C>G	GRCh37
NC_000013.9:g.47461089C>G	NCBI36
NG_008241.1:g.17375G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642944.1:c.126G>C	ENSP00000495674.1:p.Gln42His
ENST00000643023.1:c.300G>C	ENSP00000495664.1:p.Gln100His
ENST00000643584.1:c.300G>C	ENSP00000494987.1:p.Gln100His
ENST00000644338.1:c.300G>C	ENSP00000494723.1:p.Gln100His
ENST00000646602.1:c.300G>C	ENSP00000495250.1:p.Gln100His
ENST00000646804.1:c.126G>C	ENSP00000493977.1:p.Gln42His
ENST00000646932.1:c.300G>C MANE Select	ENSP00000494360.1:p.Gln100His
ENST00000647361.1:c.*93G>C	ENSP00000494607.1:n.*93G>C
ENST00000378654.8:c.300G>C	ENSP00000367923.3:p.Gln100His
ENST00000433022.1:c.90+12227G>C	ENSP00000415091.1:n.90+12227G>C
ENST00000434484.5:c.90G>C	ENSP00000392771.1:p.Gln30His
ENST00000470760.2:c.300G>C	ENSP00000488974.1:p.Gln100His
ENST00000497202.6:c.394G>C	ENSP00000489175.1:p.Gly132Arg
NM_003850.2:c.300G>C	NP_003841.1:p.Gln100His
XM_011535292.1:c.63G>C	XP_011533594.1:p.Gln21His
XM_011535293.1:c.-103G>C	XP_011533595.1:n.-103G>C
XR_941688.1:n.344G>C
NM_003850.3:c.300G>C MANE Select	NP_003841.1:p.Gln100His