Canonical Allele Identifier: CA427118802
Gene: SUCLG1 HGNC NCBI

Linked Data

dbSNP Id: rs1672524075
gnomAD v3: 2-84425589-C-T
gnomAD v4: 2-84425589-C-T
MyVariant Identifiers: chr2:g.84652713C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.84425589C>T , CM000664.2:g.84425589C>T GRCh38
NC_000002.11:g.84652713C>T , CM000664.1:g.84652713C>T GRCh37
NC_000002.10:g.84506224C>T NCBI36
NG_016755.1:g.38874G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000393868.7:c.840G>A MANE Select ENSP00000377446.2:p.Lys280=
ENST00000651342.1:c.*280G>A ENSP00000498471.1:n.*280G>A
ENST00000393868.6:c.840G>A ENSP00000377446.2:p.Lys280=
ENST00000484365.1:n.1348G>A
ENST00000487809.1:n.587G>A
ENST00000491123.5:n.686G>A
NM_003849.3:c.840G>A NP_003840.2:p.Lys280=
NM_003849.4:c.840G>A MANE Select NP_003840.2:p.Lys280=
Search 100 bp 5'
Search 100 bp 3'