Canonical Allele Identifier: CA1559373

Gene: HADHA GAREM2

Linked Data

• ClinVar Variation Id: 745142
• ClinVar RCV Id: RCV000921651 ; RCV004533546
• dbSNP Id: rs754294789
• ExAC: 2:26414386 G / A
• gnomAD v2: 2-26414386-G-A
• gnomAD v3: 2-26191517-G-A
• gnomAD v4: 2-26191517-G-A
• COSMIC: COSM6278302
• MyVariant Identifiers: chr2:g.26414386G>A (hg19) ; chr2:g.26191517G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191517G>A , CM000664.2:g.26191517G>A	GRCh38
NC_000002.11:g.26414386G>A , CM000664.1:g.26414386G>A	GRCh37
NC_000002.10:g.26267890G>A	NCBI36
NG_007121.1:g.58104C>T
NG_007121.2:g.58105C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.2112C>T (HADHA) MANE Select	ENSP00000370023.3:p.Ala704=
ENST00000492433.2:c.2112C>T (HADHA)	ENSP00000438039.2:p.Ala704=
ENST00000643057.1:c.*2003C>T (HADHA)	ENSP00000493761.1:n.*2003C>T
ENST00000643063.1:c.*1158C>T (HADHA)	ENSP00000495353.1:n.*1158C>T
ENST00000643233.1:c.*2003C>T (HADHA)	ENSP00000493880.1:n.*2003C>T
ENST00000644428.1:c.*736C>T (HADHA)	ENSP00000495560.1:n.*736C>T
ENST00000645274.1:c.2007C>T (HADHA)	ENSP00000493996.1:p.Ala669=
ENST00000646031.1:c.1471C>T (HADHA)
ENST00000646483.1:c.1978C>T (HADHA)	ENSP00000496185.1:n.1978C>T
ENST00000380649.7:c.2112C>T (HADHA)	ENSP00000370023.3:p.Ala704=
ENST00000492433.1:c.570C>T (HADHA)	ENSP00000438039.1:p.Ala190=
NM_000182.4:c.2112C>T (HADHA)	NP_000173.2:p.Ala704=
XM_011532567.1:c.1683+4202G>A (GAREM2)	XP_011530869.1:n.1683+4202G>A
XM_011532567.3:c.1683+4202G>A (GAREM2)	XP_011530869.1:n.1683+4202G>A
NM_000182.5:c.2112C>T (HADHA) MANE Select	NP_000173.2:p.Ala704=