Canonical Allele Identifier: CA388249610

Gene: SUCLA2

Linked Data

• dbSNP Id: rs141295770
• gnomAD v2: 13-48523626-C-T
• gnomAD v4: 13-47949491-C-T
• MyVariant Identifiers: chr13:g.48523626C>T (hg19) ; chr13:g.47949491C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.47949491C>T , CM000675.2:g.47949491C>T	GRCh38
NC_000013.10:g.48523626C>T , CM000675.1:g.48523626C>T	GRCh37
NC_000013.9:g.47421627C>T	NCBI36
NG_008241.1:g.56837G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000634878.2:c.733G>A
ENST00000642944.1:c.1046G>A	ENSP00000495674.1:p.Arg349Gln
ENST00000643023.1:c.1283G>A	ENSP00000495664.1:p.Arg428Gln
ENST00000643584.1:c.1220G>A	ENSP00000494987.1:p.Arg407Gln
ENST00000646804.1:c.1046G>A	ENSP00000493977.1:p.Arg349Gln
ENST00000646932.1:c.1220G>A MANE Select	ENSP00000494360.1:p.Arg407Gln
ENST00000647361.1:c.*1013G>A	ENSP00000494607.1:n.*1013G>A
ENST00000378654.8:c.1220G>A	ENSP00000367923.3:p.Arg407Gln
ENST00000467222.1:n.528G>A
ENST00000493152.6:c.71G>A	ENSP00000489055.1:p.Arg24Gln
ENST00000634878.1:c.733G>A
NM_003850.2:c.1220G>A	NP_003841.1:p.Arg407Gln
XM_011535292.1:c.983G>A	XP_011533594.1:p.Arg328Gln
XM_011535293.1:c.818G>A	XP_011533595.1:p.Arg273Gln
NM_003850.3:c.1220G>A MANE Select	NP_003841.1:p.Arg407Gln