Canonical Allele Identifier: CA347514699

Gene: SUCLG1

Linked Data

• MyVariant Identifiers: chr2:g.84652646T>G (hg19) ; chr2:g.84425522T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.84425522T>G , CM000664.2:g.84425522T>G	GRCh38
NC_000002.11:g.84652646T>G , CM000664.1:g.84652646T>G	GRCh37
NC_000002.10:g.84506157T>G	NCBI36
NG_016755.1:g.38941A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393868.7:c.907A>C MANE Select	ENSP00000377446.2:p.Ile303Leu
ENST00000651342.1:c.*347A>C	ENSP00000498471.1:n.*347A>C
ENST00000393868.6:c.907A>C	ENSP00000377446.2:p.Ile303Leu
ENST00000484365.1:n.1415A>C
ENST00000487809.1:n.654A>C
ENST00000491123.5:n.753A>C
NM_003849.3:c.907A>C	NP_003840.2:p.Ile303Leu
NM_003849.4:c.907A>C MANE Select	NP_003840.2:p.Ile303Leu