Canonical Allele Identifier: CA388249615

Gene: SUCLA2

Linked Data

• MyVariant Identifiers: chr13:g.48523629A>G (hg19) ; chr13:g.47949494A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.47949494A>G , CM000675.2:g.47949494A>G	GRCh38
NC_000013.10:g.48523629A>G , CM000675.1:g.48523629A>G	GRCh37
NC_000013.9:g.47421630A>G	NCBI36
NG_008241.1:g.56834T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634878.2:c.730T>C
ENST00000642944.1:c.1043T>C	ENSP00000495674.1:p.Val348Ala
ENST00000643023.1:c.1280T>C	ENSP00000495664.1:p.Val427Ala
ENST00000643584.1:c.1217T>C	ENSP00000494987.1:p.Val406Ala
ENST00000646804.1:c.1043T>C	ENSP00000493977.1:p.Val348Ala
ENST00000646932.1:c.1217T>C MANE Select	ENSP00000494360.1:p.Val406Ala
ENST00000647361.1:c.*1010T>C	ENSP00000494607.1:n.*1010T>C
ENST00000378654.8:c.1217T>C	ENSP00000367923.3:p.Val406Ala
ENST00000467222.1:n.525T>C
ENST00000493152.6:c.68T>C	ENSP00000489055.1:p.Val23Ala
ENST00000634878.1:c.730T>C
NM_003850.2:c.1217T>C	NP_003841.1:p.Val406Ala
XM_011535292.1:c.980T>C	XP_011533594.1:p.Val327Ala
XM_011535293.1:c.815T>C	XP_011533595.1:p.Val272Ala
NM_003850.3:c.1217T>C MANE Select	NP_003841.1:p.Val406Ala