Canonical Allele Identifier: CA346120482

Gene: HADHA GAREM2

Linked Data

• dbSNP Id: rs1295883913
• gnomAD v2: 2-26417979-C-A
• gnomAD v4: 2-26195110-C-A
• MyVariant Identifiers: chr2:g.26417979C>A (hg19) ; chr2:g.26195110C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26195110C>A , CM000664.2:g.26195110C>A	GRCh38
NC_000002.11:g.26417979C>A , CM000664.1:g.26417979C>A	GRCh37
NC_000002.10:g.26271483C>A	NCBI36
NG_007121.1:g.54511G>T
NG_007121.2:g.54512G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1602G>T (HADHA) MANE Select	ENSP00000370023.3:p.Lys534Asn
ENST00000492433.2:c.1602G>T (HADHA)	ENSP00000438039.2:p.Lys534Asn
ENST00000643057.1:c.*1493G>T (HADHA)	ENSP00000493761.1:n.*1493G>T
ENST00000643063.1:c.*648G>T (HADHA)	ENSP00000495353.1:n.*648G>T
ENST00000643233.1:c.*1493G>T (HADHA)	ENSP00000493880.1:n.*1493G>T
ENST00000644428.1:c.*226G>T (HADHA)	ENSP00000495560.1:n.*226G>T
ENST00000645274.1:c.1497G>T (HADHA)	ENSP00000493996.1:p.Lys499Asn
ENST00000646031.1:c.961G>T (HADHA)
ENST00000646483.1:c.1468G>T (HADHA)	ENSP00000496185.1:n.1468G>T
ENST00000380649.7:c.1602G>T (HADHA)	ENSP00000370023.3:p.Lys534Asn
ENST00000492433.1:c.60G>T (HADHA)	ENSP00000438039.1:p.Lys20Asn
NM_000182.4:c.1602G>T (HADHA)	NP_000173.2:p.Lys534Asn
XM_011532567.1:c.1684-7123C>A (GAREM2)	XP_011530869.1:n.1684-7123C>A
XM_011532567.3:c.1684-7123C>A (GAREM2)	XP_011530869.1:n.1684-7123C>A
NM_000182.5:c.1602G>T (HADHA) MANE Select	NP_000173.2:p.Lys534Asn