Canonical Allele Identifier: CA346121644

Gene: HADHA GAREM2

Linked Data

• gnomAD v4: 2-26195195-A-G
• MyVariant Identifiers: chr2:g.26418064A>G (hg19) ; chr2:g.26195195A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26195195A>G , CM000664.2:g.26195195A>G	GRCh38
NC_000002.11:g.26418064A>G , CM000664.1:g.26418064A>G	GRCh37
NC_000002.10:g.26271568A>G	NCBI36
NG_007121.1:g.54426T>C
NG_007121.2:g.54427T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1517T>C (HADHA) MANE Select	ENSP00000370023.3:p.Met506Thr
ENST00000492433.2:c.1517T>C (HADHA)	ENSP00000438039.2:p.Met506Thr
ENST00000643057.1:c.*1408T>C (HADHA)	ENSP00000493761.1:n.*1408T>C
ENST00000643063.1:c.*563T>C (HADHA)	ENSP00000495353.1:n.*563T>C
ENST00000643233.1:c.*1408T>C (HADHA)	ENSP00000493880.1:n.*1408T>C
ENST00000644428.1:c.*141T>C (HADHA)	ENSP00000495560.1:n.*141T>C
ENST00000645274.1:c.1412T>C (HADHA)	ENSP00000493996.1:p.Met471Thr
ENST00000646031.1:c.876T>C (HADHA)
ENST00000646483.1:c.1383T>C (HADHA)	ENSP00000496185.1:n.1383T>C
ENST00000380649.7:c.1517T>C (HADHA)	ENSP00000370023.3:p.Met506Thr
NM_000182.4:c.1517T>C (HADHA)	NP_000173.2:p.Met506Thr
XM_011532567.1:c.1684-7038A>G (GAREM2)	XP_011530869.1:n.1684-7038A>G
XM_011532567.3:c.1684-7038A>G (GAREM2)	XP_011530869.1:n.1684-7038A>G
NM_000182.5:c.1517T>C (HADHA) MANE Select	NP_000173.2:p.Met506Thr