Canonical Allele Identifier: CA346117950

Gene: HADHA GAREM2

Linked Data

• dbSNP Id: rs1474666459
• gnomAD v2: 2-26416539-G-A
• MyVariant Identifiers: chr2:g.26416539G>A (hg19) ; chr2:g.26193670G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26193670G>A , CM000664.2:g.26193670G>A	GRCh38
NC_000002.11:g.26416539G>A , CM000664.1:g.26416539G>A	GRCh37
NC_000002.10:g.26270043G>A	NCBI36
NG_007121.1:g.55951C>T
NG_007121.2:g.55952C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000380649.8:c.1792C>T (HADHA) MANE Select	ENSP00000370023.3:p.His598Tyr
ENST00000492433.2:c.1792C>T (HADHA)	ENSP00000438039.2:p.His598Tyr
ENST00000643057.1:c.*1683C>T (HADHA)	ENSP00000493761.1:n.*1683C>T
ENST00000643063.1:c.*838C>T (HADHA)	ENSP00000495353.1:n.*838C>T
ENST00000643233.1:c.*1683C>T (HADHA)	ENSP00000493880.1:n.*1683C>T
ENST00000644428.1:c.*416C>T (HADHA)	ENSP00000495560.1:n.*416C>T
ENST00000645274.1:c.1687C>T (HADHA)	ENSP00000493996.1:p.His563Tyr
ENST00000646031.1:c.1151C>T (HADHA)
ENST00000646483.1:c.1658C>T (HADHA)	ENSP00000496185.1:n.1658C>T
ENST00000380649.7:c.1792C>T (HADHA)	ENSP00000370023.3:p.His598Tyr
ENST00000492433.1:c.250C>T (HADHA)	ENSP00000438039.1:p.His84Tyr
NM_000182.4:c.1792C>T (HADHA)	NP_000173.2:p.His598Tyr
XM_011532567.1:c.1683+6355G>A (GAREM2)	XP_011530869.1:n.1683+6355G>A
XM_011532567.3:c.1683+6355G>A (GAREM2)	XP_011530869.1:n.1683+6355G>A
NM_000182.5:c.1792C>T (HADHA) MANE Select	NP_000173.2:p.His598Tyr