Canonical Allele Identifier: CA347515080
Gene: SUCLG1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.84658726A>C (hg19) chr2:g.84431602A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.84431602A>C , CM000664.2:g.84431602A>C GRCh38
NC_000002.11:g.84658726A>C , CM000664.1:g.84658726A>C GRCh37
NC_000002.10:g.84512237A>C NCBI36
NG_016755.1:g.32861T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000393868.7:c.731T>G MANE Select ENSP00000377446.2:p.Leu244Trp
ENST00000651342.1:c.*171T>G ENSP00000498471.1:n.*171T>G
ENST00000393868.6:c.731T>G ENSP00000377446.2:p.Leu244Trp
ENST00000487809.1:n.478T>G
ENST00000491123.5:n.577T>G
NM_003849.3:c.731T>G NP_003840.2:p.Leu244Trp
NM_003849.4:c.731T>G MANE Select NP_003840.2:p.Leu244Trp
Search 100 bp 5'
Search 100 bp 3'