Canonical Allele Identifier: CA347515038

Gene: SUCLG1

Linked Data

• MyVariant Identifiers: chr2:g.84658707T>A (hg19) ; chr2:g.84431583T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.84431583T>A , CM000664.2:g.84431583T>A	GRCh38
NC_000002.11:g.84658707T>A , CM000664.1:g.84658707T>A	GRCh37
NC_000002.10:g.84512218T>A	NCBI36
NG_016755.1:g.32880A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393868.7:c.750A>T MANE Select	ENSP00000377446.2:p.Glu250Asp
ENST00000651342.1:c.*190A>T	ENSP00000498471.1:n.*190A>T
ENST00000393868.6:c.750A>T	ENSP00000377446.2:p.Glu250Asp
ENST00000487809.1:n.497A>T
ENST00000491123.5:n.596A>T
NM_003849.3:c.750A>T	NP_003840.2:p.Glu250Asp
NM_003849.4:c.750A>T MANE Select	NP_003840.2:p.Glu250Asp