Canonical Allele Identifier: CA346126293

Gene: HADHA GAREM2

Linked Data

• MyVariant Identifiers: chr2:g.26424042G>C (hg19) ; chr2:g.26201173G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26201173G>C , CM000664.2:g.26201173G>C	GRCh38
NC_000002.11:g.26424042G>C , CM000664.1:g.26424042G>C	GRCh37
NC_000002.10:g.26277546G>C	NCBI36
NG_007121.1:g.48448C>G
NG_007121.2:g.48449C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1368C>G (HADHA) MANE Select	ENSP00000370023.3:p.His456Gln
ENST00000492433.2:c.1368C>G (HADHA)	ENSP00000438039.2:p.His456Gln
ENST00000643057.1:c.*1259C>G (HADHA)	ENSP00000493761.1:n.*1259C>G
ENST00000643063.1:c.*414C>G (HADHA)	ENSP00000495353.1:n.*414C>G
ENST00000643233.1:c.*1259C>G (HADHA)	ENSP00000493880.1:n.*1259C>G
ENST00000644428.1:c.1368C>G (HADHA)	ENSP00000495560.1:p.His456Gln
ENST00000645274.1:c.1263C>G (HADHA)	ENSP00000493996.1:p.His421Gln
ENST00000646031.1:c.727C>G (HADHA)
ENST00000646483.1:c.1234C>G (HADHA)	ENSP00000496185.1:n.1234C>G
ENST00000380649.7:c.1368C>G (HADHA)	ENSP00000370023.3:p.His456Gln
NM_000182.4:c.1368C>G (HADHA)	NP_000173.2:p.His456Gln
XM_011532567.1:c.1684-1060G>C (GAREM2)	XP_011530869.1:n.1684-1060G>C
XM_011532567.3:c.1684-1060G>C (GAREM2)	XP_011530869.1:n.1684-1060G>C
NM_000182.5:c.1368C>G (HADHA) MANE Select	NP_000173.2:p.His456Gln