Canonical Allele Identifier: CA347514845
Gene: SUCLG1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.84652718A>G (hg19) chr2:g.84425594A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.84425594A>G , CM000664.2:g.84425594A>G GRCh38
NC_000002.11:g.84652718A>G , CM000664.1:g.84652718A>G GRCh37
NC_000002.10:g.84506229A>G NCBI36
NG_016755.1:g.38869T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000393868.7:c.835T>C MANE Select ENSP00000377446.2:p.Ser279Pro
ENST00000651342.1:c.*275T>C ENSP00000498471.1:n.*275T>C
ENST00000393868.6:c.835T>C ENSP00000377446.2:p.Ser279Pro
ENST00000484365.1:n.1343T>C
ENST00000487809.1:n.582T>C
ENST00000491123.5:n.681T>C
NM_003849.3:c.835T>C NP_003840.2:p.Ser279Pro
NM_003849.4:c.835T>C MANE Select NP_003840.2:p.Ser279Pro
Search 100 bp 5'
Search 100 bp 3'