Canonical Allele Identifier: CA346121634

Gene: HADHA GAREM2

Linked Data

• gnomAD v4: 2-26195193-G-T
• MyVariant Identifiers: chr2:g.26418062G>T (hg19) ; chr2:g.26195193G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26195193G>T , CM000664.2:g.26195193G>T	GRCh38
NC_000002.11:g.26418062G>T , CM000664.1:g.26418062G>T	GRCh37
NC_000002.10:g.26271566G>T	NCBI36
NG_007121.1:g.54428C>A
NG_007121.2:g.54429C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1519C>A (HADHA) MANE Select	ENSP00000370023.3:p.Gln507Lys
ENST00000492433.2:c.1519C>A (HADHA)	ENSP00000438039.2:p.Gln507Lys
ENST00000643057.1:c.*1410C>A (HADHA)	ENSP00000493761.1:n.*1410C>A
ENST00000643063.1:c.*565C>A (HADHA)	ENSP00000495353.1:n.*565C>A
ENST00000643233.1:c.*1410C>A (HADHA)	ENSP00000493880.1:n.*1410C>A
ENST00000644428.1:c.*143C>A (HADHA)	ENSP00000495560.1:n.*143C>A
ENST00000645274.1:c.1414C>A (HADHA)	ENSP00000493996.1:p.Gln472Lys
ENST00000646031.1:c.878C>A (HADHA)
ENST00000646483.1:c.1385C>A (HADHA)	ENSP00000496185.1:n.1385C>A
ENST00000380649.7:c.1519C>A (HADHA)	ENSP00000370023.3:p.Gln507Lys
NM_000182.4:c.1519C>A (HADHA)	NP_000173.2:p.Gln507Lys
XM_011532567.1:c.1684-7040G>T (GAREM2)	XP_011530869.1:n.1684-7040G>T
XM_011532567.3:c.1684-7040G>T (GAREM2)	XP_011530869.1:n.1684-7040G>T
NM_000182.5:c.1519C>A (HADHA) MANE Select	NP_000173.2:p.Gln507Lys