Canonical Allele Identifier: CA346114825

Gene: HADHA GAREM2

Linked Data

• gnomAD v4: 2-26192359-C-G
• MyVariant Identifiers: chr2:g.26415228C>G (hg19) ; chr2:g.26192359C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26192359C>G , CM000664.2:g.26192359C>G	GRCh38
NC_000002.11:g.26415228C>G , CM000664.1:g.26415228C>G	GRCh37
NC_000002.10:g.26268732C>G	NCBI36
NG_007121.1:g.57262G>C
NG_007121.2:g.57263G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1951G>C (HADHA) MANE Select	ENSP00000370023.3:p.Asp651His
ENST00000492433.2:c.1951G>C (HADHA)	ENSP00000438039.2:p.Asp651His
ENST00000643057.1:c.*1842G>C (HADHA)	ENSP00000493761.1:n.*1842G>C
ENST00000643063.1:c.*997G>C (HADHA)	ENSP00000495353.1:n.*997G>C
ENST00000643233.1:c.*1842G>C (HADHA)	ENSP00000493880.1:n.*1842G>C
ENST00000644428.1:c.*575G>C (HADHA)	ENSP00000495560.1:n.*575G>C
ENST00000645274.1:c.1846G>C (HADHA)	ENSP00000493996.1:p.Asp616His
ENST00000646031.1:c.1310G>C (HADHA)
ENST00000646483.1:c.1817G>C (HADHA)	ENSP00000496185.1:n.1817G>C
ENST00000380649.7:c.1951G>C (HADHA)	ENSP00000370023.3:p.Asp651His
ENST00000492433.1:c.409G>C (HADHA)	ENSP00000438039.1:p.Asp137His
NM_000182.4:c.1951G>C (HADHA)	NP_000173.2:p.Asp651His
XM_011532567.1:c.1683+5044C>G (GAREM2)	XP_011530869.1:n.1683+5044C>G
XM_011532567.3:c.1683+5044C>G (GAREM2)	XP_011530869.1:n.1683+5044C>G
NM_000182.5:c.1951G>C (HADHA) MANE Select	NP_000173.2:p.Asp651His