Canonical Allele Identifier: CA1736148
Gene: SUCLG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2213965
ClinVar RCV Id: RCV002669246 RCV003140151
dbSNP Id: rs764916394
ExAC: 2:84652709 C / T
gnomAD v2: 2-84652709-C-T
gnomAD v3: 2-84425585-C-T
gnomAD v4: 2-84425585-C-T
MyVariant Identifiers: chr2:g.84652709C>T (hg19) chr2:g.84425585C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.84425585C>T , CM000664.2:g.84425585C>T GRCh38
NC_000002.11:g.84652709C>T , CM000664.1:g.84652709C>T GRCh37
NC_000002.10:g.84506220C>T NCBI36
NG_016755.1:g.38878G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000393868.7:c.844G>A MANE Select ENSP00000377446.2:p.Val282Ile
ENST00000651342.1:c.*284G>A ENSP00000498471.1:n.*284G>A
ENST00000393868.6:c.844G>A ENSP00000377446.2:p.Val282Ile
ENST00000484365.1:n.1352G>A
ENST00000487809.1:n.591G>A
ENST00000491123.5:n.690G>A
NM_003849.3:c.844G>A NP_003840.2:p.Val282Ile
NM_003849.4:c.844G>A MANE Select NP_003840.2:p.Val282Ile
Search 100 bp 5'
Search 100 bp 3'