Canonical Allele Identifier: CA52253311
Gene: SUCLG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2720798
ClinVar RCV Id: RCV003496946
dbSNP Id: rs770827084
gnomAD v3: 2-84431573-A-G
gnomAD v4: 2-84431573-A-G
MyVariant Identifiers: chr2:g.84658697A>G (hg19) chr2:g.84431573A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.84431573A>G , CM000664.2:g.84431573A>G GRCh38
NC_000002.11:g.84658697A>G , CM000664.1:g.84658697A>G GRCh37
NC_000002.10:g.84512208A>G NCBI36
NG_016755.1:g.32890T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000393868.7:c.760T>C MANE Select ENSP00000377446.2:p.Leu254=
ENST00000651342.1:c.*200T>C ENSP00000498471.1:n.*200T>C
ENST00000393868.6:c.760T>C ENSP00000377446.2:p.Leu254=
ENST00000487809.1:n.507T>C
ENST00000491123.5:n.606T>C
NM_003849.3:c.760T>C NP_003840.2:p.Leu254=
NM_003849.4:c.760T>C MANE Select NP_003840.2:p.Leu254=
Search 100 bp 5'
Search 100 bp 3'