Canonical Allele Identifier: CA52252252
Gene: SUCLG1 HGNC NCBI

Linked Data

dbSNP Id: rs971101683
gnomAD v3: 2-84425199-T-G
gnomAD v4: 2-84425199-T-G
MyVariant Identifiers: chr2:g.84652323T>G (hg19) chr2:g.84425199T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.84425199T>G , CM000664.2:g.84425199T>G GRCh38
NC_000002.11:g.84652323T>G , CM000664.1:g.84652323T>G GRCh37
NC_000002.10:g.84505834T>G NCBI36
NG_016755.1:g.39264A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000393868.7:c.1014+216A>C MANE Select ENSP00000377446.2:n.1014+216A>C
ENST00000651342.1:c.*454+216A>C ENSP00000498471.1:n.*454+216A>C
ENST00000393868.6:c.1014+216A>C ENSP00000377446.2:n.1014+216A>C
ENST00000484365.1:n.1522+216A>C
ENST00000491123.5:n.860+216A>C
NM_003849.3:c.1014+216A>C NP_003840.2:n.1014+216A>C
NM_003849.4:c.1014+216A>C MANE Select NP_003840.2:n.1014+216A>C
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