Canonical Allele Identifier: CA346114920

Gene: HADHA GAREM2

Linked Data

• MyVariant Identifiers: chr2:g.26415237A>C (hg19) ; chr2:g.26192368A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26192368A>C , CM000664.2:g.26192368A>C	GRCh38
NC_000002.11:g.26415237A>C , CM000664.1:g.26415237A>C	GRCh37
NC_000002.10:g.26268741A>C	NCBI36
NG_007121.1:g.57253T>G
NG_007121.2:g.57254T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1942T>G (HADHA) MANE Select	ENSP00000370023.3:p.Leu648Val
ENST00000492433.2:c.1942T>G (HADHA)	ENSP00000438039.2:p.Leu648Val
ENST00000643057.1:c.*1833T>G (HADHA)	ENSP00000493761.1:n.*1833T>G
ENST00000643063.1:c.*988T>G (HADHA)	ENSP00000495353.1:n.*988T>G
ENST00000643233.1:c.*1833T>G (HADHA)	ENSP00000493880.1:n.*1833T>G
ENST00000644428.1:c.*566T>G (HADHA)	ENSP00000495560.1:n.*566T>G
ENST00000645274.1:c.1837T>G (HADHA)	ENSP00000493996.1:p.Leu613Val
ENST00000646031.1:c.1301T>G (HADHA)
ENST00000646483.1:c.1808T>G (HADHA)	ENSP00000496185.1:n.1808T>G
ENST00000380649.7:c.1942T>G (HADHA)	ENSP00000370023.3:p.Leu648Val
ENST00000492433.1:c.400T>G (HADHA)	ENSP00000438039.1:p.Leu134Val
NM_000182.4:c.1942T>G (HADHA)	NP_000173.2:p.Leu648Val
XM_011532567.1:c.1683+5053A>C (GAREM2)	XP_011530869.1:n.1683+5053A>C
XM_011532567.3:c.1683+5053A>C (GAREM2)	XP_011530869.1:n.1683+5053A>C
NM_000182.5:c.1942T>G (HADHA) MANE Select	NP_000173.2:p.Leu648Val