Canonical Allele Identifier: CA346114768

Gene: HADHA GAREM2

Linked Data

• gnomAD v4: 2-26192354-C-A
• MyVariant Identifiers: chr2:g.26415223C>A (hg19) ; chr2:g.26192354C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26192354C>A , CM000664.2:g.26192354C>A	GRCh38
NC_000002.11:g.26415223C>A , CM000664.1:g.26415223C>A	GRCh37
NC_000002.10:g.26268727C>A	NCBI36
NG_007121.1:g.57267G>T
NG_007121.2:g.57268G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000380649.8:c.1956G>T (HADHA) MANE Select	ENSP00000370023.3:p.Met652Ile
ENST00000492433.2:c.1956G>T (HADHA)	ENSP00000438039.2:p.Met652Ile
ENST00000643057.1:c.*1847G>T (HADHA)	ENSP00000493761.1:n.*1847G>T
ENST00000643063.1:c.*1002G>T (HADHA)	ENSP00000495353.1:n.*1002G>T
ENST00000643233.1:c.*1847G>T (HADHA)	ENSP00000493880.1:n.*1847G>T
ENST00000644428.1:c.*580G>T (HADHA)	ENSP00000495560.1:n.*580G>T
ENST00000645274.1:c.1851G>T (HADHA)	ENSP00000493996.1:p.Met617Ile
ENST00000646031.1:c.1315G>T (HADHA)
ENST00000646483.1:c.1822G>T (HADHA)	ENSP00000496185.1:n.1822G>T
ENST00000380649.7:c.1956G>T (HADHA)	ENSP00000370023.3:p.Met652Ile
ENST00000492433.1:c.414G>T (HADHA)	ENSP00000438039.1:p.Met138Ile
NM_000182.4:c.1956G>T (HADHA)	NP_000173.2:p.Met652Ile
XM_011532567.1:c.1683+5039C>A (GAREM2)	XP_011530869.1:n.1683+5039C>A
XM_011532567.3:c.1683+5039C>A (GAREM2)	XP_011530869.1:n.1683+5039C>A
NM_000182.5:c.1956G>T (HADHA) MANE Select	NP_000173.2:p.Met652Ile