Canonical Allele Identifier: CA346112207

Gene: HADHA GAREM2

Linked Data

• dbSNP Id: rs1387910535
• gnomAD v4: 2-26191440-C-T
• MyVariant Identifiers: chr2:g.26414309C>T (hg19) ; chr2:g.26191440C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191440C>T , CM000664.2:g.26191440C>T	GRCh38
NC_000002.11:g.26414309C>T , CM000664.1:g.26414309C>T	GRCh37
NC_000002.10:g.26267813C>T	NCBI36
NG_007121.1:g.58181G>A
NG_007121.2:g.58182G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.2146+43G>A (HADHA) MANE Select	ENSP00000370023.3:n.2146+43G>A
ENST00000492433.2:c.2189G>A (HADHA)	ENSP00000438039.2:p.Ser730Asn
ENST00000643057.1:c.*2080G>A (HADHA)	ENSP00000493761.1:n.*2080G>A
ENST00000643063.1:c.*1192+43G>A (HADHA)	ENSP00000495353.1:n.*1192+43G>A
ENST00000643233.1:c.*2037+43G>A (HADHA)	ENSP00000493880.1:n.*2037+43G>A
ENST00000644428.1:c.*770+43G>A (HADHA)	ENSP00000495560.1:n.*770+43G>A
ENST00000645274.1:c.2041+43G>A (HADHA)	ENSP00000493996.1:n.2041+43G>A
ENST00000646031.1:c.1505+43G>A (HADHA)
ENST00000646483.1:c.2012+43G>A (HADHA)	ENSP00000496185.1:n.2012+43G>A
ENST00000380649.7:c.2146+43G>A (HADHA)	ENSP00000370023.3:n.2146+43G>A
ENST00000492433.1:c.647G>A (HADHA)	ENSP00000438039.1:p.Ser216Asn
NM_000182.4:c.2146+43G>A (HADHA)	NP_000173.2:n.2146+43G>A
XM_011532567.1:c.1683+4125C>T (GAREM2)	XP_011530869.1:n.1683+4125C>T
XM_011532567.3:c.1683+4125C>T (GAREM2)	XP_011530869.1:n.1683+4125C>T
NM_000182.5:c.2146+43G>A (HADHA) MANE Select	NP_000173.2:n.2146+43G>A