Canonical Allele Identifier: CA346126481

Gene: HADHA GAREM2

Linked Data

• MyVariant Identifiers: chr2:g.26424056G>A (hg19) ; chr2:g.26201187G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26201187G>A , CM000664.2:g.26201187G>A	GRCh38
NC_000002.11:g.26424056G>A , CM000664.1:g.26424056G>A	GRCh37
NC_000002.10:g.26277560G>A	NCBI36
NG_007121.1:g.48434C>T
NG_007121.2:g.48435C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1354C>T (HADHA) MANE Select	ENSP00000370023.3:p.Leu452Phe
ENST00000492433.2:c.1354C>T (HADHA)	ENSP00000438039.2:p.Leu452Phe
ENST00000643057.1:c.*1245C>T (HADHA)	ENSP00000493761.1:n.*1245C>T
ENST00000643063.1:c.*400C>T (HADHA)	ENSP00000495353.1:n.*400C>T
ENST00000643233.1:c.*1245C>T (HADHA)	ENSP00000493880.1:n.*1245C>T
ENST00000644428.1:c.1354C>T (HADHA)	ENSP00000495560.1:p.Leu452Phe
ENST00000645274.1:c.1249C>T (HADHA)	ENSP00000493996.1:p.Leu417Phe
ENST00000646031.1:c.713C>T (HADHA)
ENST00000646483.1:c.1220C>T (HADHA)	ENSP00000496185.1:n.1220C>T
ENST00000380649.7:c.1354C>T (HADHA)	ENSP00000370023.3:p.Leu452Phe
NM_000182.4:c.1354C>T (HADHA)	NP_000173.2:p.Leu452Phe
XM_011532567.1:c.1684-1046G>A (GAREM2)	XP_011530869.1:n.1684-1046G>A
XM_011532567.3:c.1684-1046G>A (GAREM2)	XP_011530869.1:n.1684-1046G>A
NM_000182.5:c.1354C>T (HADHA) MANE Select	NP_000173.2:p.Leu452Phe