Canonical Allele Identifier: CA346112397

Gene: HADHA GAREM2

Linked Data

• dbSNP Id: rs794727219
• MyVariant Identifiers: chr2:g.26414351C>A (hg19) ; chr2:g.26191482C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191482C>A , CM000664.2:g.26191482C>A	GRCh38
NC_000002.11:g.26414351C>A , CM000664.1:g.26414351C>A	GRCh37
NC_000002.10:g.26267855C>A	NCBI36
NG_007121.1:g.58139G>T
NG_007121.2:g.58140G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000380649.8:c.2146+1G>T (HADHA) MANE Select	ENSP00000370023.3:n.2146+1G>T
ENST00000492433.2:c.2147G>T (HADHA)	ENSP00000438039.2:p.Gly716Val
ENST00000643057.1:c.*2038G>T (HADHA)	ENSP00000493761.1:n.*2038G>T
ENST00000643063.1:c.*1192+1G>T (HADHA)	ENSP00000495353.1:n.*1192+1G>T
ENST00000643233.1:c.*2037+1G>T (HADHA)	ENSP00000493880.1:n.*2037+1G>T
ENST00000644428.1:c.*770+1G>T (HADHA)	ENSP00000495560.1:n.*770+1G>T
ENST00000645274.1:c.2041+1G>T (HADHA)	ENSP00000493996.1:n.2041+1G>T
ENST00000646031.1:c.1505+1G>T (HADHA)
ENST00000646483.1:c.2012+1G>T (HADHA)	ENSP00000496185.1:n.2012+1G>T
ENST00000380649.7:c.2146+1G>T (HADHA)	ENSP00000370023.3:n.2146+1G>T
ENST00000492433.1:c.605G>T (HADHA)	ENSP00000438039.1:p.Gly202Val
NM_000182.4:c.2146+1G>T (HADHA)	NP_000173.2:n.2146+1G>T
XM_011532567.1:c.1683+4167C>A (GAREM2)	XP_011530869.1:n.1683+4167C>A
XM_011532567.3:c.1683+4167C>A (GAREM2)	XP_011530869.1:n.1683+4167C>A
NM_000182.5:c.2146+1G>T (HADHA) MANE Select	NP_000173.2:n.2146+1G>T