Canonical Allele Identifier: CA346115178

Gene: HADHA GAREM2

Linked Data

• MyVariant Identifiers: chr2:g.26415259C>G (hg19) ; chr2:g.26192390C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26192390C>G , CM000664.2:g.26192390C>G	GRCh38
NC_000002.11:g.26415259C>G , CM000664.1:g.26415259C>G	GRCh37
NC_000002.10:g.26268763C>G	NCBI36
NG_007121.1:g.57231G>C
NG_007121.2:g.57232G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1920G>C (HADHA) MANE Select	ENSP00000370023.3:p.Gln640His
ENST00000492433.2:c.1920G>C (HADHA)	ENSP00000438039.2:p.Gln640His
ENST00000643057.1:c.*1811G>C (HADHA)	ENSP00000493761.1:n.*1811G>C
ENST00000643063.1:c.*966G>C (HADHA)	ENSP00000495353.1:n.*966G>C
ENST00000643233.1:c.*1811G>C (HADHA)	ENSP00000493880.1:n.*1811G>C
ENST00000644428.1:c.*544G>C (HADHA)	ENSP00000495560.1:n.*544G>C
ENST00000645274.1:c.1815G>C (HADHA)	ENSP00000493996.1:p.Gln605His
ENST00000646031.1:c.1279G>C (HADHA)
ENST00000646483.1:c.1786G>C (HADHA)	ENSP00000496185.1:n.1786G>C
ENST00000380649.7:c.1920G>C (HADHA)	ENSP00000370023.3:p.Gln640His
ENST00000492433.1:c.378G>C (HADHA)	ENSP00000438039.1:p.Gln126His
NM_000182.4:c.1920G>C (HADHA)	NP_000173.2:p.Gln640His
XM_011532567.1:c.1683+5075C>G (GAREM2)	XP_011530869.1:n.1683+5075C>G
XM_011532567.3:c.1683+5075C>G (GAREM2)	XP_011530869.1:n.1683+5075C>G
NM_000182.5:c.1920G>C (HADHA) MANE Select	NP_000173.2:p.Gln640His