Canonical Allele Identifier: CA534628485
Gene: SUCLG1 HGNC NCBI

Linked Data

dbSNP Id: rs371622046
gnomAD v2: 2-84652494-G-A
MyVariant Identifiers: chr2:g.84652494G>A (hg19) chr2:g.84425370G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.84425370G>A , CM000664.2:g.84425370G>A GRCh38
NC_000002.11:g.84652494G>A , CM000664.1:g.84652494G>A GRCh37
NC_000002.10:g.84506005G>A NCBI36
NG_016755.1:g.39093C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000393868.7:c.1014+45C>T MANE Select ENSP00000377446.2:n.1014+45C>T
ENST00000651342.1:c.*454+45C>T ENSP00000498471.1:n.*454+45C>T
ENST00000393868.6:c.1014+45C>T ENSP00000377446.2:n.1014+45C>T
ENST00000484365.1:n.1522+45C>T
ENST00000491123.5:n.860+45C>T
NM_003849.3:c.1014+45C>T NP_003840.2:n.1014+45C>T
NM_003849.4:c.1014+45C>T MANE Select NP_003840.2:n.1014+45C>T
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