Canonical Allele Identifier: CA1736134
Gene: SUCLG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2013782
ClinVar RCV Id: RCV002829671
dbSNP Id: rs777534009
ExAC: 2:84652604 C / G
gnomAD v2: 2-84652604-C-G
gnomAD v3: 2-84425480-C-G
gnomAD v4: 2-84425480-C-G
MyVariant Identifiers: chr2:g.84652604C>G (hg19) chr2:g.84425480C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.84425480C>G , CM000664.2:g.84425480C>G GRCh38
NC_000002.11:g.84652604C>G , CM000664.1:g.84652604C>G GRCh37
NC_000002.10:g.84506115C>G NCBI36
NG_016755.1:g.38983G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000393868.7:c.949G>C MANE Select ENSP00000377446.2:p.Ala317Pro
ENST00000651342.1:c.*389G>C ENSP00000498471.1:n.*389G>C
ENST00000393868.6:c.949G>C ENSP00000377446.2:p.Ala317Pro
ENST00000484365.1:n.1457G>C
ENST00000487809.1:n.696G>C
ENST00000491123.5:n.795G>C
NM_003849.3:c.949G>C NP_003840.2:p.Ala317Pro
NM_003849.4:c.949G>C MANE Select NP_003840.2:p.Ala317Pro
Search 100 bp 5'
Search 100 bp 3'