Canonical Allele Identifier: CA1559337

Gene: HADHA GAREM2

Linked Data

• ClinVar Variation Id: 2925920
• ClinVar RCV Id: RCV003784014
• dbSNP Id: rs371667948
• ExAC: 2:26414274 G / T
• gnomAD v2: 2-26414274-G-T
• gnomAD v4: 2-26191405-G-T
• MyVariant Identifiers: chr2:g.26414274G>T (hg19) ; chr2:g.26191405G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191405G>T , CM000664.2:g.26191405G>T	GRCh38
NC_000002.11:g.26414274G>T , CM000664.1:g.26414274G>T	GRCh37
NC_000002.10:g.26267778G>T	NCBI36
NG_007121.1:g.58216C>A
NG_007121.2:g.58217C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000380649.8:c.2147-10C>A (HADHA) MANE Select	ENSP00000370023.3:n.2147-10C>A
ENST00000492433.2:c.2224C>A (HADHA)	ENSP00000438039.2:p.Leu742Ile
ENST00000643057.1:c.*2115C>A (HADHA)	ENSP00000493761.1:n.*2115C>A
ENST00000643063.1:c.*1193-10C>A (HADHA)	ENSP00000495353.1:n.*1193-10C>A
ENST00000643233.1:c.*2038-10C>A (HADHA)	ENSP00000493880.1:n.*2038-10C>A
ENST00000644428.1:c.*771-10C>A (HADHA)	ENSP00000495560.1:n.*771-10C>A
ENST00000645274.1:c.2042-10C>A (HADHA)	ENSP00000493996.1:n.2042-10C>A
ENST00000646031.1:c.1506-10C>A (HADHA)
ENST00000646483.1:c.2013-10C>A (HADHA)	ENSP00000496185.1:n.2013-10C>A
ENST00000380649.7:c.2147-10C>A (HADHA)	ENSP00000370023.3:n.2147-10C>A
ENST00000492433.1:c.682C>A (HADHA)	ENSP00000438039.1:p.Leu228Ile
NM_000182.4:c.2147-10C>A (HADHA)	NP_000173.2:n.2147-10C>A
XM_011532567.1:c.1683+4090G>T (GAREM2)	XP_011530869.1:n.1683+4090G>T
XM_011532567.3:c.1683+4090G>T (GAREM2)	XP_011530869.1:n.1683+4090G>T
NM_000182.5:c.2147-10C>A (HADHA) MANE Select	NP_000173.2:n.2147-10C>A