Canonical Allele Identifier: CA347514622
Gene: SUCLG1 HGNC NCBI

Linked Data

dbSNP Id: rs746990982
gnomAD v2: 2-84652611-C-G
gnomAD v4: 2-84425487-C-G
MyVariant Identifiers: chr2:g.84652611C>G (hg19) chr2:g.84425487C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.84425487C>G , CM000664.2:g.84425487C>G GRCh38
NC_000002.11:g.84652611C>G , CM000664.1:g.84652611C>G GRCh37
NC_000002.10:g.84506122C>G NCBI36
NG_016755.1:g.38976G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000393868.7:c.942G>C MANE Select ENSP00000377446.2:p.Lys314Asn
ENST00000651342.1:c.*382G>C ENSP00000498471.1:n.*382G>C
ENST00000393868.6:c.942G>C ENSP00000377446.2:p.Lys314Asn
ENST00000484365.1:n.1450G>C
ENST00000487809.1:n.689G>C
ENST00000491123.5:n.788G>C
NM_003849.3:c.942G>C NP_003840.2:p.Lys314Asn
NM_003849.4:c.942G>C MANE Select NP_003840.2:p.Lys314Asn
Search 100 bp 5'
Search 100 bp 3'