Canonical Allele Identifier: CA427118798
Gene: SUCLG1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.84652707T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.84425583T>G , CM000664.2:g.84425583T>G GRCh38
NC_000002.11:g.84652707T>G , CM000664.1:g.84652707T>G GRCh37
NC_000002.10:g.84506218T>G NCBI36
NG_016755.1:g.38880A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000393868.7:c.846A>C MANE Select ENSP00000377446.2:p.Val282=
ENST00000651342.1:c.*286A>C ENSP00000498471.1:n.*286A>C
ENST00000393868.6:c.846A>C ENSP00000377446.2:p.Val282=
ENST00000484365.1:n.1354A>C
ENST00000487809.1:n.593A>C
ENST00000491123.5:n.692A>C
NM_003849.3:c.846A>C NP_003840.2:p.Val282=
NM_003849.4:c.846A>C MANE Select NP_003840.2:p.Val282=