Canonical Allele Identifier: CA388151219

Gene: SUCLA2

Linked Data

• dbSNP Id: rs1465290947
• gnomAD v2: 13-48563020-A-C
• gnomAD v4: 13-47988885-A-C
• MyVariant Identifiers: chr13:g.48563020A>C (hg19) ; chr13:g.47988885A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.47988885A>C , CM000675.2:g.47988885A>C	GRCh38
NC_000013.10:g.48563020A>C , CM000675.1:g.48563020A>C	GRCh37
NC_000013.9:g.47461021A>C	NCBI36
NG_008241.1:g.17443T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642944.1:c.194T>G	ENSP00000495674.1:p.Phe65Cys
ENST00000643023.1:c.368T>G	ENSP00000495664.1:p.Phe123Cys
ENST00000643584.1:c.368T>G	ENSP00000494987.1:p.Phe123Cys
ENST00000644338.1:c.368T>G	ENSP00000494723.1:p.Phe123Cys
ENST00000646602.1:c.368T>G	ENSP00000495250.1:p.Phe123Cys
ENST00000646804.1:c.194T>G	ENSP00000493977.1:p.Phe65Cys
ENST00000646932.1:c.368T>G MANE Select	ENSP00000494360.1:p.Phe123Cys
ENST00000647361.1:c.*161T>G	ENSP00000494607.1:n.*161T>G
ENST00000378654.8:c.368T>G	ENSP00000367923.3:p.Phe123Cys
ENST00000433022.1:c.90+12295T>G	ENSP00000415091.1:n.90+12295T>G
ENST00000434484.5:c.158T>G	ENSP00000392771.1:p.Phe53Cys
ENST00000470760.2:c.368T>G	ENSP00000488974.1:p.Phe123Cys
ENST00000497202.6:c.462T>G	ENSP00000489175.1:n.462T>G
NM_003850.2:c.368T>G	NP_003841.1:p.Phe123Cys
XM_011535292.1:c.131T>G	XP_011533594.1:p.Phe44Cys
XM_011535293.1:c.-35T>G	XP_011533595.1:n.-35T>G
XR_941688.1:n.412T>G
NM_003850.3:c.368T>G MANE Select	NP_003841.1:p.Phe123Cys