Canonical Allele Identifier: CA1559332

Gene: HADHA GAREM2

Linked Data

• dbSNP Id: rs766506078
• ExAC: 2:26414244 G / C
• gnomAD v2: 2-26414244-G-C
• gnomAD v3: 2-26191375-G-C
• gnomAD v4: 2-26191375-G-C
• MyVariant Identifiers: chr2:g.26414244G>C (hg19) ; chr2:g.26191375G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191375G>C , CM000664.2:g.26191375G>C	GRCh38
NC_000002.11:g.26414244G>C , CM000664.1:g.26414244G>C	GRCh37
NC_000002.10:g.26267748G>C	NCBI36
NG_007121.1:g.58246C>G
NG_007121.2:g.58247C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.2167C>G (HADHA) MANE Select	ENSP00000370023.3:p.Leu723Val
ENST00000492433.2:c.2254C>G (HADHA)	ENSP00000438039.2:p.Leu752Val
ENST00000643057.1:c.*2145C>G (HADHA)	ENSP00000493761.1:n.*2145C>G
ENST00000643063.1:c.*1213C>G (HADHA)	ENSP00000495353.1:n.*1213C>G
ENST00000643233.1:c.*2058C>G (HADHA)	ENSP00000493880.1:n.*2058C>G
ENST00000644428.1:c.*791C>G (HADHA)	ENSP00000495560.1:n.*791C>G
ENST00000645274.1:c.2062C>G (HADHA)	ENSP00000493996.1:p.Leu688Val
ENST00000646031.1:c.1526C>G (HADHA)
ENST00000646483.1:c.2033C>G (HADHA)	ENSP00000496185.1:n.2033C>G
ENST00000380649.7:c.2167C>G (HADHA)	ENSP00000370023.3:p.Leu723Val
ENST00000492433.1:c.712C>G (HADHA)	ENSP00000438039.1:p.Leu238Val
NM_000182.4:c.2167C>G (HADHA)	NP_000173.2:p.Leu723Val
XM_011532567.1:c.1683+4060G>C (GAREM2)	XP_011530869.1:n.1683+4060G>C
XM_011532567.3:c.1683+4060G>C (GAREM2)	XP_011530869.1:n.1683+4060G>C
NM_000182.5:c.2167C>G (HADHA) MANE Select	NP_000173.2:p.Leu723Val