Canonical Allele Identifier: CA425201147

Gene: HADHA GAREM2

Linked Data

• gnomAD v4: 2-26201251-A-C
• MyVariant Identifiers: chr2:g.26424120A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26201251A>C , CM000664.2:g.26201251A>C	GRCh38
NC_000002.11:g.26424120A>C , CM000664.1:g.26424120A>C	GRCh37
NC_000002.10:g.26277624A>C	NCBI36
NG_007121.1:g.48370T>G
NG_007121.2:g.48371T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1290T>G (HADHA) MANE Select	ENSP00000370023.3:p.Thr430=
ENST00000492433.2:c.1290T>G (HADHA)	ENSP00000438039.2:p.Thr430=
ENST00000643057.1:c.*1181T>G (HADHA)	ENSP00000493761.1:n.*1181T>G
ENST00000643063.1:c.*336T>G (HADHA)	ENSP00000495353.1:n.*336T>G
ENST00000643233.1:c.*1181T>G (HADHA)	ENSP00000493880.1:n.*1181T>G
ENST00000644428.1:c.1290T>G (HADHA)	ENSP00000495560.1:p.Thr430=
ENST00000645274.1:c.1185T>G (HADHA)	ENSP00000493996.1:p.Thr395=
ENST00000646031.1:c.649T>G (HADHA)
ENST00000646483.1:c.1156T>G (HADHA)	ENSP00000496185.1:n.1156T>G
ENST00000380649.7:c.1290T>G (HADHA)	ENSP00000370023.3:p.Thr430=
NM_000182.4:c.1290T>G (HADHA)	NP_000173.2:p.Thr430=
XM_011532567.1:c.1684-982A>C (GAREM2)	XP_011530869.1:n.1684-982A>C
XM_011532567.3:c.1684-982A>C (GAREM2)	XP_011530869.1:n.1684-982A>C
NM_000182.5:c.1290T>G (HADHA) MANE Select	NP_000173.2:p.Thr430=