Canonical Allele Identifier: CA388249617

Gene: SUCLA2

Linked Data

• MyVariant Identifiers: chr13:g.48523630C>A (hg19) ; chr13:g.47949495C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.47949495C>A , CM000675.2:g.47949495C>A	GRCh38
NC_000013.10:g.48523630C>A , CM000675.1:g.48523630C>A	GRCh37
NC_000013.9:g.47421631C>A	NCBI36
NG_008241.1:g.56833G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634878.2:c.729G>T
ENST00000642944.1:c.1042G>T	ENSP00000495674.1:p.Val348Leu
ENST00000643023.1:c.1279G>T	ENSP00000495664.1:p.Val427Leu
ENST00000643584.1:c.1216G>T	ENSP00000494987.1:p.Val406Leu
ENST00000646804.1:c.1042G>T	ENSP00000493977.1:p.Val348Leu
ENST00000646932.1:c.1216G>T MANE Select	ENSP00000494360.1:p.Val406Leu
ENST00000647361.1:c.*1009G>T	ENSP00000494607.1:n.*1009G>T
ENST00000378654.8:c.1216G>T	ENSP00000367923.3:p.Val406Leu
ENST00000467222.1:n.524G>T
ENST00000493152.6:c.67G>T	ENSP00000489055.1:p.Val23Leu
ENST00000634878.1:c.729G>T
NM_003850.2:c.1216G>T	NP_003841.1:p.Val406Leu
XM_011535292.1:c.979G>T	XP_011533594.1:p.Val327Leu
XM_011535293.1:c.814G>T	XP_011533595.1:p.Val272Leu
NM_003850.3:c.1216G>T MANE Select	NP_003841.1:p.Val406Leu