Canonical Allele Identifier: CA1559365

Gene: HADHA GAREM2

Linked Data

• dbSNP Id: rs763085690
• ExAC: 2:26414349 A / C
• gnomAD v2: 2-26414349-A-C
• gnomAD v4: 2-26191480-A-C
• MyVariant Identifiers: chr2:g.26414349A>C (hg19) ; chr2:g.26191480A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191480A>C , CM000664.2:g.26191480A>C	GRCh38
NC_000002.11:g.26414349A>C , CM000664.1:g.26414349A>C	GRCh37
NC_000002.10:g.26267853A>C	NCBI36
NG_007121.1:g.58141T>G
NG_007121.2:g.58142T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.2146+3T>G (HADHA) MANE Select	ENSP00000370023.3:n.2146+3T>G
ENST00000492433.2:c.2149T>G (HADHA)	ENSP00000438039.2:p.Trp717Gly
ENST00000643057.1:c.*2040T>G (HADHA)	ENSP00000493761.1:n.*2040T>G
ENST00000643063.1:c.*1192+3T>G (HADHA)	ENSP00000495353.1:n.*1192+3T>G
ENST00000643233.1:c.*2037+3T>G (HADHA)	ENSP00000493880.1:n.*2037+3T>G
ENST00000644428.1:c.*770+3T>G (HADHA)	ENSP00000495560.1:n.*770+3T>G
ENST00000645274.1:c.2041+3T>G (HADHA)	ENSP00000493996.1:n.2041+3T>G
ENST00000646031.1:c.1505+3T>G (HADHA)
ENST00000646483.1:c.2012+3T>G (HADHA)	ENSP00000496185.1:n.2012+3T>G
ENST00000380649.7:c.2146+3T>G (HADHA)	ENSP00000370023.3:n.2146+3T>G
ENST00000492433.1:c.607T>G (HADHA)	ENSP00000438039.1:p.Trp203Gly
NM_000182.4:c.2146+3T>G (HADHA)	NP_000173.2:n.2146+3T>G
XM_011532567.1:c.1683+4165A>C (GAREM2)	XP_011530869.1:n.1683+4165A>C
XM_011532567.3:c.1683+4165A>C (GAREM2)	XP_011530869.1:n.1683+4165A>C
NM_000182.5:c.2146+3T>G (HADHA) MANE Select	NP_000173.2:n.2146+3T>G