Canonical Allele Identifier: CA427441533

Gene: SUCLG1

Linked Data

• ClinVar Variation Id: 2091821
• ClinVar RCV Id: RCV003008057
• dbSNP Id: rs1408367448
• gnomAD v2: 2-84668467-T-C
• gnomAD v3: 2-84441343-T-C
• gnomAD v4: 2-84441343-T-C
• MyVariant Identifiers: chr2:g.84668467T>C (hg19) ; chr2:g.84441343T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.84441343T>C , CM000664.2:g.84441343T>C	GRCh38
NC_000002.11:g.84668467T>C , CM000664.1:g.84668467T>C	GRCh37
NC_000002.10:g.84521978T>C	NCBI36
NG_016755.1:g.23120A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000393868.7:c.435A>G MANE Select	ENSP00000377446.2:p.Glu145=
ENST00000651342.1:c.435A>G	ENSP00000498471.1:p.Glu145=
ENST00000393868.6:c.435A>G	ENSP00000377446.2:p.Glu145=
ENST00000430989.1:n.475A>G
ENST00000442240.5:c.446A>G
ENST00000483605.5:n.514A>G
ENST00000491642.5:n.607A>G
NM_003849.3:c.435A>G	NP_003840.2:p.Glu145=
NM_003849.4:c.435A>G MANE Select	NP_003840.2:p.Glu145=