Canonical Allele Identifier: CA425200331

Gene: HADHA GAREM2

Linked Data

• ClinVar Variation Id: 1089199
• ClinVar RCV Id: RCV001407957
• dbSNP Id: rs2147752107
• gnomAD v4: 2-26193677-T-A
• MyVariant Identifiers: chr2:g.26416546T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26193677T>A , CM000664.2:g.26193677T>A	GRCh38
NC_000002.11:g.26416546T>A , CM000664.1:g.26416546T>A	GRCh37
NC_000002.10:g.26270050T>A	NCBI36
NG_007121.1:g.55944A>T
NG_007121.2:g.55945A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000380649.8:c.1785A>T (HADHA) MANE Select	ENSP00000370023.3:p.Val595=
ENST00000492433.2:c.1785A>T (HADHA)	ENSP00000438039.2:p.Val595=
ENST00000643057.1:c.*1676A>T (HADHA)	ENSP00000493761.1:n.*1676A>T
ENST00000643063.1:c.*831A>T (HADHA)	ENSP00000495353.1:n.*831A>T
ENST00000643233.1:c.*1676A>T (HADHA)	ENSP00000493880.1:n.*1676A>T
ENST00000644428.1:c.*409A>T (HADHA)	ENSP00000495560.1:n.*409A>T
ENST00000645274.1:c.1680A>T (HADHA)	ENSP00000493996.1:p.Val560=
ENST00000646031.1:c.1144A>T (HADHA)
ENST00000646483.1:c.1651A>T (HADHA)	ENSP00000496185.1:n.1651A>T
ENST00000380649.7:c.1785A>T (HADHA)	ENSP00000370023.3:p.Val595=
ENST00000492433.1:c.243A>T (HADHA)	ENSP00000438039.1:p.Val81=
NM_000182.4:c.1785A>T (HADHA)	NP_000173.2:p.Val595=
XM_011532567.1:c.1683+6362T>A (GAREM2)	XP_011530869.1:n.1683+6362T>A
XM_011532567.3:c.1683+6362T>A (GAREM2)	XP_011530869.1:n.1683+6362T>A
NM_000182.5:c.1785A>T (HADHA) MANE Select	NP_000173.2:p.Val595=