Canonical Allele Identifier: CA427119093

Gene: SUCLG1

Linked Data

• gnomAD v4: 2-84431619-G-A
• COSMIC: COSM3583648
• MyVariant Identifiers: chr2:g.84658743G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.84431619G>A , CM000664.2:g.84431619G>A	GRCh38
NC_000002.11:g.84658743G>A , CM000664.1:g.84658743G>A	GRCh37
NC_000002.10:g.84512254G>A	NCBI36
NG_016755.1:g.32844C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393868.7:c.714C>T MANE Select	ENSP00000377446.2:p.Asp238=
ENST00000651342.1:c.*154C>T	ENSP00000498471.1:n.*154C>T
ENST00000393868.6:c.714C>T	ENSP00000377446.2:p.Asp238=
ENST00000487809.1:n.461C>T
ENST00000491123.5:n.560C>T
NM_003849.3:c.714C>T	NP_003840.2:p.Asp238=
NM_003849.4:c.714C>T MANE Select	NP_003840.2:p.Asp238=