Canonical Allele Identifier: CA346111435

Gene: HADHA GAREM2

Linked Data

• MyVariant Identifiers: chr2:g.26414159G>T (hg19) ; chr2:g.26191290G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191290G>T , CM000664.2:g.26191290G>T	GRCh38
NC_000002.11:g.26414159G>T , CM000664.1:g.26414159G>T	GRCh37
NC_000002.10:g.26267663G>T	NCBI36
NG_007121.1:g.58331C>A
NG_007121.2:g.58332C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.2252C>A (HADHA) MANE Select	ENSP00000370023.3:p.Ala751Asp
ENST00000492433.2:c.2339C>A (HADHA)	ENSP00000438039.2:p.Ala780Asp
ENST00000643057.1:c.*2230C>A (HADHA)	ENSP00000493761.1:n.*2230C>A
ENST00000643063.1:c.*1298C>A (HADHA)	ENSP00000495353.1:n.*1298C>A
ENST00000643233.1:c.*2143C>A (HADHA)	ENSP00000493880.1:n.*2143C>A
ENST00000644428.1:c.*876C>A (HADHA)	ENSP00000495560.1:n.*876C>A
ENST00000645274.1:c.2147C>A (HADHA)	ENSP00000493996.1:p.Ala716Asp
ENST00000646031.1:c.1611C>A (HADHA)
ENST00000646483.1:c.2118C>A (HADHA)	ENSP00000496185.1:n.2118C>A
ENST00000380649.7:c.2252C>A (HADHA)	ENSP00000370023.3:p.Ala751Asp
NM_000182.4:c.2252C>A (HADHA)	NP_000173.2:p.Ala751Asp
XM_011532567.1:c.1683+3975G>T (GAREM2)	XP_011530869.1:n.1683+3975G>T
XM_011532567.3:c.1683+3975G>T (GAREM2)	XP_011530869.1:n.1683+3975G>T
NM_000182.5:c.2252C>A (HADHA) MANE Select	NP_000173.2:p.Ala751Asp