Canonical Allele Identifier: CA44384172

Gene: HADHA GAREM2

Linked Data

• dbSNP Id: rs11552520
• MyVariant Identifiers: chr2:g.26424084G>A (hg19) ; chr2:g.26201215G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26201215G>A , CM000664.2:g.26201215G>A	GRCh38
NC_000002.11:g.26424084G>A , CM000664.1:g.26424084G>A	GRCh37
NC_000002.10:g.26277588G>A	NCBI36
NG_007121.1:g.48406C>T
NG_007121.2:g.48407C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000380649.8:c.1326C>T (HADHA) MANE Select	ENSP00000370023.3:p.Asp442=
ENST00000492433.2:c.1326C>T (HADHA)	ENSP00000438039.2:p.Asp442=
ENST00000643057.1:c.*1217C>T (HADHA)	ENSP00000493761.1:n.*1217C>T
ENST00000643063.1:c.*372C>T (HADHA)	ENSP00000495353.1:n.*372C>T
ENST00000643233.1:c.*1217C>T (HADHA)	ENSP00000493880.1:n.*1217C>T
ENST00000644428.1:c.1326C>T (HADHA)	ENSP00000495560.1:p.Asp442=
ENST00000645274.1:c.1221C>T (HADHA)	ENSP00000493996.1:p.Asp407=
ENST00000646031.1:c.685C>T (HADHA)
ENST00000646483.1:c.1192C>T (HADHA)	ENSP00000496185.1:n.1192C>T
ENST00000380649.7:c.1326C>T (HADHA)	ENSP00000370023.3:p.Asp442=
NM_000182.4:c.1326C>T (HADHA)	NP_000173.2:p.Asp442=
XM_011532567.1:c.1684-1018G>A (GAREM2)	XP_011530869.1:n.1684-1018G>A
XM_011532567.3:c.1684-1018G>A (GAREM2)	XP_011530869.1:n.1684-1018G>A
NM_000182.5:c.1326C>T (HADHA) MANE Select	NP_000173.2:p.Asp442=