Canonical Allele Identifier: CA1559358

Gene: HADHA GAREM2

Linked Data

• dbSNP Id: rs372669268
• ExAC: 2:26414329 C / T
• gnomAD v2: 2-26414329-C-T
• gnomAD v4: 2-26191460-C-T
• MyVariant Identifiers: chr2:g.26414329C>T (hg19) ; chr2:g.26191460C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191460C>T , CM000664.2:g.26191460C>T	GRCh38
NC_000002.11:g.26414329C>T , CM000664.1:g.26414329C>T	GRCh37
NC_000002.10:g.26267833C>T	NCBI36
NG_007121.1:g.58161G>A
NG_007121.2:g.58162G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.2146+23G>A (HADHA) MANE Select	ENSP00000370023.3:n.2146+23G>A
ENST00000492433.2:c.2169G>A (HADHA)	ENSP00000438039.2:p.Arg723=
ENST00000643057.1:c.*2060G>A (HADHA)	ENSP00000493761.1:n.*2060G>A
ENST00000643063.1:c.*1192+23G>A (HADHA)	ENSP00000495353.1:n.*1192+23G>A
ENST00000643233.1:c.*2037+23G>A (HADHA)	ENSP00000493880.1:n.*2037+23G>A
ENST00000644428.1:c.*770+23G>A (HADHA)	ENSP00000495560.1:n.*770+23G>A
ENST00000645274.1:c.2041+23G>A (HADHA)	ENSP00000493996.1:n.2041+23G>A
ENST00000646031.1:c.1505+23G>A (HADHA)
ENST00000646483.1:c.2012+23G>A (HADHA)	ENSP00000496185.1:n.2012+23G>A
ENST00000380649.7:c.2146+23G>A (HADHA)	ENSP00000370023.3:n.2146+23G>A
ENST00000492433.1:c.627G>A (HADHA)	ENSP00000438039.1:p.Arg209=
NM_000182.4:c.2146+23G>A (HADHA)	NP_000173.2:n.2146+23G>A
XM_011532567.1:c.1683+4145C>T (GAREM2)	XP_011530869.1:n.1683+4145C>T
XM_011532567.3:c.1683+4145C>T (GAREM2)	XP_011530869.1:n.1683+4145C>T
NM_000182.5:c.2146+23G>A (HADHA) MANE Select	NP_000173.2:n.2146+23G>A