Canonical Allele Identifier: CA52252262

Gene: SUCLG1

Linked Data

• dbSNP Id: rs1048346458
• gnomAD v2: 2-84652395-T-C
• gnomAD v3: 2-84425271-T-C
• gnomAD v4: 2-84425271-T-C
• MyVariant Identifiers: chr2:g.84652395T>C (hg19) ; chr2:g.84425271T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.84425271T>C , CM000664.2:g.84425271T>C	GRCh38
NC_000002.11:g.84652395T>C , CM000664.1:g.84652395T>C	GRCh37
NC_000002.10:g.84505906T>C	NCBI36
NG_016755.1:g.39192A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393868.7:c.1014+144A>G MANE Select	ENSP00000377446.2:n.1014+144A>G
ENST00000651342.1:c.*454+144A>G	ENSP00000498471.1:n.*454+144A>G
ENST00000393868.6:c.1014+144A>G	ENSP00000377446.2:n.1014+144A>G
ENST00000484365.1:n.1522+144A>G
ENST00000491123.5:n.860+144A>G
NM_003849.3:c.1014+144A>G	NP_003840.2:n.1014+144A>G
NM_003849.4:c.1014+144A>G MANE Select	NP_003840.2:n.1014+144A>G