Canonical Allele Identifier: CA1559426

Gene: HADHA GAREM2

Linked Data

• dbSNP Id: rs780290833
• ExAC: 2:26415321 A / G
• gnomAD v2: 2-26415321-A-G
• MyVariant Identifiers: chr2:g.26415321A>G (hg19) ; chr2:g.26192452A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26192452A>G , CM000664.2:g.26192452A>G	GRCh38
NC_000002.11:g.26415321A>G , CM000664.1:g.26415321A>G	GRCh37
NC_000002.10:g.26268825A>G	NCBI36
NG_007121.1:g.57169T>C
NG_007121.2:g.57170T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1886-28T>C (HADHA) MANE Select	ENSP00000370023.3:n.1886-28T>C
ENST00000492433.2:c.1886-28T>C (HADHA)	ENSP00000438039.2:n.1886-28T>C
ENST00000643057.1:c.*1777-28T>C (HADHA)	ENSP00000493761.1:n.*1777-28T>C
ENST00000643063.1:c.*932-28T>C (HADHA)	ENSP00000495353.1:n.*932-28T>C
ENST00000643233.1:c.*1777-28T>C (HADHA)	ENSP00000493880.1:n.*1777-28T>C
ENST00000644428.1:c.*510-28T>C (HADHA)	ENSP00000495560.1:n.*510-28T>C
ENST00000645274.1:c.1781-28T>C (HADHA)	ENSP00000493996.1:n.1781-28T>C
ENST00000646031.1:c.1245-28T>C (HADHA)
ENST00000646483.1:c.1752-28T>C (HADHA)	ENSP00000496185.1:n.1752-28T>C
ENST00000380649.7:c.1886-28T>C (HADHA)	ENSP00000370023.3:n.1886-28T>C
ENST00000492433.1:c.344-28T>C (HADHA)	ENSP00000438039.1:n.344-28T>C
NM_000182.4:c.1886-28T>C (HADHA)	NP_000173.2:n.1886-28T>C
XM_011532567.1:c.1683+5137A>G (GAREM2)	XP_011530869.1:n.1683+5137A>G
XM_011532567.3:c.1683+5137A>G (GAREM2)	XP_011530869.1:n.1683+5137A>G
NM_000182.5:c.1886-28T>C (HADHA) MANE Select	NP_000173.2:n.1886-28T>C