Canonical Allele Identifier: CA425200075

Gene: HADHA GAREM2

Linked Data

• gnomAD v4: 2-26192324-A-G
• MyVariant Identifiers: chr2:g.26415193A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26192324A>G , CM000664.2:g.26192324A>G	GRCh38
NC_000002.11:g.26415193A>G , CM000664.1:g.26415193A>G	GRCh37
NC_000002.10:g.26268697A>G	NCBI36
NG_007121.1:g.57297T>C
NG_007121.2:g.57298T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1986T>C (HADHA) MANE Select	ENSP00000370023.3:p.Pro662=
ENST00000492433.2:c.1986T>C (HADHA)	ENSP00000438039.2:p.Pro662=
ENST00000643057.1:c.*1877T>C (HADHA)	ENSP00000493761.1:n.*1877T>C
ENST00000643063.1:c.*1032T>C (HADHA)	ENSP00000495353.1:n.*1032T>C
ENST00000643233.1:c.*1877T>C (HADHA)	ENSP00000493880.1:n.*1877T>C
ENST00000644428.1:c.*610T>C (HADHA)	ENSP00000495560.1:n.*610T>C
ENST00000645274.1:c.1881T>C (HADHA)	ENSP00000493996.1:p.Pro627=
ENST00000646031.1:c.1345T>C (HADHA)
ENST00000646483.1:c.1852T>C (HADHA)	ENSP00000496185.1:n.1852T>C
ENST00000380649.7:c.1986T>C (HADHA)	ENSP00000370023.3:p.Pro662=
ENST00000492433.1:c.444T>C (HADHA)	ENSP00000438039.1:p.Pro148=
NM_000182.4:c.1986T>C (HADHA)	NP_000173.2:p.Pro662=
XM_011532567.1:c.1683+5009A>G (GAREM2)	XP_011530869.1:n.1683+5009A>G
XM_011532567.3:c.1683+5009A>G (GAREM2)	XP_011530869.1:n.1683+5009A>G
NM_000182.5:c.1986T>C (HADHA) MANE Select	NP_000173.2:p.Pro662=