Canonical Allele Identifier: CA346111364

Gene: HADHA GAREM2

Linked Data

• dbSNP Id: rs1164215761
• gnomAD v2: 2-26414138-T-C
• gnomAD v4: 2-26191269-T-C
• MyVariant Identifiers: chr2:g.26414138T>C (hg19) ; chr2:g.26191269T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191269T>C , CM000664.2:g.26191269T>C	GRCh38
NC_000002.11:g.26414138T>C , CM000664.1:g.26414138T>C	GRCh37
NC_000002.10:g.26267642T>C	NCBI36
NG_007121.1:g.58352A>G
NG_007121.2:g.58353A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.2273A>G (HADHA) MANE Select	ENSP00000370023.3:p.Asn758Ser
ENST00000492433.2:c.2360A>G (HADHA)	ENSP00000438039.2:p.Asn787Ser
ENST00000643057.1:c.*2251A>G (HADHA)	ENSP00000493761.1:n.*2251A>G
ENST00000643063.1:c.*1319A>G (HADHA)	ENSP00000495353.1:n.*1319A>G
ENST00000643233.1:c.*2164A>G (HADHA)	ENSP00000493880.1:n.*2164A>G
ENST00000644428.1:c.*897A>G (HADHA)	ENSP00000495560.1:n.*897A>G
ENST00000645274.1:c.2168A>G (HADHA)	ENSP00000493996.1:p.Asn723Ser
ENST00000646031.1:c.1632A>G (HADHA)
ENST00000646483.1:c.2139A>G (HADHA)	ENSP00000496185.1:n.2139A>G
ENST00000380649.7:c.2273A>G (HADHA)	ENSP00000370023.3:p.Asn758Ser
NM_000182.4:c.2273A>G (HADHA)	NP_000173.2:p.Asn758Ser
XM_011532567.1:c.1683+3954T>C (GAREM2)	XP_011530869.1:n.1683+3954T>C
XM_011532567.3:c.1683+3954T>C (GAREM2)	XP_011530869.1:n.1683+3954T>C
NM_000182.5:c.2273A>G (HADHA) MANE Select	NP_000173.2:p.Asn758Ser