Canonical Allele Identifier: CA1736156
Gene: SUCLG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2723737
ClinVar RCV Id: RCV003497029
dbSNP Id: rs749304121
ExAC: 2:84652742 A / G
gnomAD v2: 2-84652742-A-G
gnomAD v4: 2-84425618-A-G
MyVariant Identifiers: chr2:g.84652742A>G (hg19) chr2:g.84425618A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.84425618A>G , CM000664.2:g.84425618A>G GRCh38
NC_000002.11:g.84652742A>G , CM000664.1:g.84652742A>G GRCh37
NC_000002.10:g.84506253A>G NCBI36
NG_016755.1:g.38845T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000393868.7:c.826-15T>C MANE Select ENSP00000377446.2:n.826-15T>C
ENST00000651342.1:c.*266-15T>C ENSP00000498471.1:n.*266-15T>C
ENST00000393868.6:c.826-15T>C ENSP00000377446.2:n.826-15T>C
ENST00000484365.1:n.1319T>C
ENST00000487809.1:n.573-15T>C
ENST00000491123.5:n.672-15T>C
NM_003849.3:c.826-15T>C NP_003840.2:n.826-15T>C
NM_003849.4:c.826-15T>C MANE Select NP_003840.2:n.826-15T>C
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