Canonical Allele Identifier: CA531391279

Gene: HADHA GAREM2

Linked Data

• dbSNP Id: rs1558313165
• gnomAD v2: 2-26414052-C-T
• gnomAD v3: 2-26191183-C-T
• gnomAD v4: 2-26191183-C-T
• MyVariant Identifiers: chr2:g.26414052_26414054delinsTTG (hg19) ; chr2:g.26191183_26191185delinsTTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191183C>T , CM000664.2:g.26191183C>T	GRCh38
NC_000002.11:g.26414052C>T , CM000664.1:g.26414052C>T	GRCh37
NC_000002.10:g.26267556C>T	NCBI36
NG_007121.1:g.58438G>A
NG_007121.2:g.58439G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.*67G>A (HADHA) MANE Select	ENSP00000370023.3:n.*67G>A
ENST00000492433.2:c.*67G>A (HADHA)	ENSP00000438039.2:n.*67G>A
ENST00000643057.1:c.*2337G>A (HADHA)	ENSP00000493761.1:n.*2337G>A
ENST00000643063.1:c.*1405G>A (HADHA)	ENSP00000495353.1:n.*1405G>A
ENST00000643233.1:c.*2250G>A (HADHA)	ENSP00000493880.1:n.*2250G>A
ENST00000644428.1:c.*983G>A (HADHA)	ENSP00000495560.1:n.*983G>A
ENST00000645274.1:c.*67G>A (HADHA)	ENSP00000493996.1:n.*67G>A
ENST00000646031.1:c.1718G>A (HADHA)
ENST00000380649.7:c.*67G>A (HADHA)	ENSP00000370023.3:n.*67G>A
NM_000182.4:c.*67G>A (HADHA)	NP_000173.2:n.*67G>A
XM_011532567.1:c.1683+3868C>T (GAREM2)	XP_011530869.1:n.1683+3868C>T
XM_011532567.3:c.1683+3868C>T (GAREM2)	XP_011530869.1:n.1683+3868C>T
NM_000182.5:c.*67G>A (HADHA) MANE Select	NP_000173.2:n.*67G>A