Canonical Allele Identifier: CA346112388

Gene: HADHA GAREM2

Linked Data

• dbSNP Id: rs1057516350
• MyVariant Identifiers: chr2:g.26414350A>C (hg19) ; chr2:g.26191481A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191481A>C , CM000664.2:g.26191481A>C	GRCh38
NC_000002.11:g.26414350A>C , CM000664.1:g.26414350A>C	GRCh37
NC_000002.10:g.26267854A>C	NCBI36
NG_007121.1:g.58140T>G
NG_007121.2:g.58141T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.2146+2T>G (HADHA) MANE Select	ENSP00000370023.3:n.2146+2T>G
ENST00000492433.2:c.2148T>G (HADHA)	ENSP00000438039.2:p.Gly716=
ENST00000643057.1:c.*2039T>G (HADHA)	ENSP00000493761.1:n.*2039T>G
ENST00000643063.1:c.*1192+2T>G (HADHA)	ENSP00000495353.1:n.*1192+2T>G
ENST00000643233.1:c.*2037+2T>G (HADHA)	ENSP00000493880.1:n.*2037+2T>G
ENST00000644428.1:c.*770+2T>G (HADHA)	ENSP00000495560.1:n.*770+2T>G
ENST00000645274.1:c.2041+2T>G (HADHA)	ENSP00000493996.1:n.2041+2T>G
ENST00000646031.1:c.1505+2T>G (HADHA)
ENST00000646483.1:c.2012+2T>G (HADHA)	ENSP00000496185.1:n.2012+2T>G
ENST00000380649.7:c.2146+2T>G (HADHA)	ENSP00000370023.3:n.2146+2T>G
ENST00000492433.1:c.606T>G (HADHA)	ENSP00000438039.1:p.Gly202=
NM_000182.4:c.2146+2T>G (HADHA)	NP_000173.2:n.2146+2T>G
XM_011532567.1:c.1683+4166A>C (GAREM2)	XP_011530869.1:n.1683+4166A>C
XM_011532567.3:c.1683+4166A>C (GAREM2)	XP_011530869.1:n.1683+4166A>C
NM_000182.5:c.2146+2T>G (HADHA) MANE Select	NP_000173.2:n.2146+2T>G