Canonical Allele Identifier: CA531391284

Gene: HADHA GAREM2

Linked Data

• dbSNP Id: rs1394293398
• gnomAD v2: 2-26414072-C-A
• gnomAD v3: 2-26191203-C-A
• gnomAD v4: 2-26191203-C-A
• MyVariant Identifiers: chr2:g.26414072C>A (hg19) ; chr2:g.26191203C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191203C>A , CM000664.2:g.26191203C>A	GRCh38
NC_000002.11:g.26414072C>A , CM000664.1:g.26414072C>A	GRCh37
NC_000002.10:g.26267576C>A	NCBI36
NG_007121.1:g.58418G>T
NG_007121.2:g.58419G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.*47G>T (HADHA) MANE Select	ENSP00000370023.3:n.*47G>T
ENST00000492433.2:c.*47G>T (HADHA)	ENSP00000438039.2:n.*47G>T
ENST00000643057.1:c.*2317G>T (HADHA)	ENSP00000493761.1:n.*2317G>T
ENST00000643063.1:c.*1385G>T (HADHA)	ENSP00000495353.1:n.*1385G>T
ENST00000643233.1:c.*2230G>T (HADHA)	ENSP00000493880.1:n.*2230G>T
ENST00000644428.1:c.*963G>T (HADHA)	ENSP00000495560.1:n.*963G>T
ENST00000645274.1:c.*47G>T (HADHA)	ENSP00000493996.1:n.*47G>T
ENST00000646031.1:c.1698G>T (HADHA)
ENST00000380649.7:c.*47G>T (HADHA)	ENSP00000370023.3:n.*47G>T
NM_000182.4:c.*47G>T (HADHA)	NP_000173.2:n.*47G>T
XM_011532567.1:c.1683+3888C>A (GAREM2)	XP_011530869.1:n.1683+3888C>A
XM_011532567.3:c.1683+3888C>A (GAREM2)	XP_011530869.1:n.1683+3888C>A
NM_000182.5:c.*47G>T (HADHA) MANE Select	NP_000173.2:n.*47G>T