Canonical Allele Identifier: CA388249624

Gene: SUCLA2

Linked Data

• MyVariant Identifiers: chr13:g.48523633C>G (hg19) ; chr13:g.47949498C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.47949498C>G , CM000675.2:g.47949498C>G	GRCh38
NC_000013.10:g.48523633C>G , CM000675.1:g.48523633C>G	GRCh37
NC_000013.9:g.47421634C>G	NCBI36
NG_008241.1:g.56830G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634878.2:c.726G>C
ENST00000642944.1:c.1039G>C	ENSP00000495674.1:p.Val347Leu
ENST00000643023.1:c.1276G>C	ENSP00000495664.1:p.Val426Leu
ENST00000643584.1:c.1213G>C	ENSP00000494987.1:p.Val405Leu
ENST00000646804.1:c.1039G>C	ENSP00000493977.1:p.Val347Leu
ENST00000646932.1:c.1213G>C MANE Select	ENSP00000494360.1:p.Val405Leu
ENST00000647361.1:c.*1006G>C	ENSP00000494607.1:n.*1006G>C
ENST00000378654.8:c.1213G>C	ENSP00000367923.3:p.Val405Leu
ENST00000467222.1:n.521G>C
ENST00000493152.6:c.64G>C	ENSP00000489055.1:p.Val22Leu
ENST00000634878.1:c.726G>C
NM_003850.2:c.1213G>C	NP_003841.1:p.Val405Leu
XM_011535292.1:c.976G>C	XP_011533594.1:p.Val326Leu
XM_011535293.1:c.811G>C	XP_011533595.1:p.Val271Leu
NM_003850.3:c.1213G>C MANE Select	NP_003841.1:p.Val405Leu