Canonical Allele Identifier: CA425200068

Gene: HADHA GAREM2

Linked Data

• gnomAD v4: 2-26192315-A-G
• MyVariant Identifiers: chr2:g.26415184A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26192315A>G , CM000664.2:g.26192315A>G	GRCh38
NC_000002.11:g.26415184A>G , CM000664.1:g.26415184A>G	GRCh37
NC_000002.10:g.26268688A>G	NCBI36
NG_007121.1:g.57306T>C
NG_007121.2:g.57307T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1995T>C (HADHA) MANE Select	ENSP00000370023.3:p.Ser665=
ENST00000492433.2:c.1995T>C (HADHA)	ENSP00000438039.2:p.Ser665=
ENST00000643057.1:c.*1886T>C (HADHA)	ENSP00000493761.1:n.*1886T>C
ENST00000643063.1:c.*1041T>C (HADHA)	ENSP00000495353.1:n.*1041T>C
ENST00000643233.1:c.*1886T>C (HADHA)	ENSP00000493880.1:n.*1886T>C
ENST00000644428.1:c.*619T>C (HADHA)	ENSP00000495560.1:n.*619T>C
ENST00000645274.1:c.1890T>C (HADHA)	ENSP00000493996.1:p.Ser630=
ENST00000646031.1:c.1354T>C (HADHA)
ENST00000646483.1:c.1861T>C (HADHA)	ENSP00000496185.1:n.1861T>C
ENST00000380649.7:c.1995T>C (HADHA)	ENSP00000370023.3:p.Ser665=
ENST00000492433.1:c.453T>C (HADHA)	ENSP00000438039.1:p.Ser151=
NM_000182.4:c.1995T>C (HADHA)	NP_000173.2:p.Ser665=
XM_011532567.1:c.1683+5000A>G (GAREM2)	XP_011530869.1:n.1683+5000A>G
XM_011532567.3:c.1683+5000A>G (GAREM2)	XP_011530869.1:n.1683+5000A>G
NM_000182.5:c.1995T>C (HADHA) MANE Select	NP_000173.2:p.Ser665=