Canonical Allele Identifier: CA346118503

Gene: HADHA GAREM2

Linked Data

• MyVariant Identifiers: chr2:g.26416626T>G (hg19) ; chr2:g.26193757T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26193757T>G , CM000664.2:g.26193757T>G	GRCh38
NC_000002.11:g.26416626T>G , CM000664.1:g.26416626T>G	GRCh37
NC_000002.10:g.26270130T>G	NCBI36
NG_007121.1:g.55864A>C
NG_007121.2:g.55865A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1705A>C (HADHA) MANE Select	ENSP00000370023.3:p.Lys569Gln
ENST00000492433.2:c.1705A>C (HADHA)	ENSP00000438039.2:p.Lys569Gln
ENST00000643057.1:c.*1596A>C (HADHA)	ENSP00000493761.1:n.*1596A>C
ENST00000643063.1:c.*751A>C (HADHA)	ENSP00000495353.1:n.*751A>C
ENST00000643233.1:c.*1596A>C (HADHA)	ENSP00000493880.1:n.*1596A>C
ENST00000644428.1:c.*329A>C (HADHA)	ENSP00000495560.1:n.*329A>C
ENST00000645274.1:c.1600A>C (HADHA)	ENSP00000493996.1:p.Lys534Gln
ENST00000646031.1:c.1064A>C (HADHA)
ENST00000646483.1:c.1571A>C (HADHA)	ENSP00000496185.1:n.1571A>C
ENST00000380649.7:c.1705A>C (HADHA)	ENSP00000370023.3:p.Lys569Gln
ENST00000492433.1:c.163A>C (HADHA)	ENSP00000438039.1:p.Lys55Gln
NM_000182.4:c.1705A>C (HADHA)	NP_000173.2:p.Lys569Gln
XM_011532567.1:c.1683+6442T>G (GAREM2)	XP_011530869.1:n.1683+6442T>G
XM_011532567.3:c.1683+6442T>G (GAREM2)	XP_011530869.1:n.1683+6442T>G
NM_000182.5:c.1705A>C (HADHA) MANE Select	NP_000173.2:p.Lys569Gln