Canonical Allele Identifier: CA346111359

Gene: HADHA GAREM2

Linked Data

• gnomAD v4: 2-26191268-G-C
• MyVariant Identifiers: chr2:g.26414137G>C (hg19) ; chr2:g.26191268G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191268G>C , CM000664.2:g.26191268G>C	GRCh38
NC_000002.11:g.26414137G>C , CM000664.1:g.26414137G>C	GRCh37
NC_000002.10:g.26267641G>C	NCBI36
NG_007121.1:g.58353C>G
NG_007121.2:g.58354C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.2274C>G (HADHA) MANE Select	ENSP00000370023.3:p.Asn758Lys
ENST00000492433.2:c.2361C>G (HADHA)	ENSP00000438039.2:p.Asn787Lys
ENST00000643057.1:c.*2252C>G (HADHA)	ENSP00000493761.1:n.*2252C>G
ENST00000643063.1:c.*1320C>G (HADHA)	ENSP00000495353.1:n.*1320C>G
ENST00000643233.1:c.*2165C>G (HADHA)	ENSP00000493880.1:n.*2165C>G
ENST00000644428.1:c.*898C>G (HADHA)	ENSP00000495560.1:n.*898C>G
ENST00000645274.1:c.2169C>G (HADHA)	ENSP00000493996.1:p.Asn723Lys
ENST00000646031.1:c.1633C>G (HADHA)
ENST00000646483.1:c.2140C>G (HADHA)	ENSP00000496185.1:n.2140C>G
ENST00000380649.7:c.2274C>G (HADHA)	ENSP00000370023.3:p.Asn758Lys
NM_000182.4:c.2274C>G (HADHA)	NP_000173.2:p.Asn758Lys
XM_011532567.1:c.1683+3953G>C (GAREM2)	XP_011530869.1:n.1683+3953G>C
XM_011532567.3:c.1683+3953G>C (GAREM2)	XP_011530869.1:n.1683+3953G>C
NM_000182.5:c.2274C>G (HADHA) MANE Select	NP_000173.2:p.Asn758Lys