Canonical Allele Identifier: CA1559334

Gene: HADHA GAREM2

Linked Data

• dbSNP Id: rs755518457
• ExAC: 2:26414267 G / T
• gnomAD v2: 2-26414267-G-T
• gnomAD v4: 2-26191398-G-T
• MyVariant Identifiers: chr2:g.26414267G>T (hg19) ; chr2:g.26191398G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191398G>T , CM000664.2:g.26191398G>T	GRCh38
NC_000002.11:g.26414267G>T , CM000664.1:g.26414267G>T	GRCh37
NC_000002.10:g.26267771G>T	NCBI36
NG_007121.1:g.58223C>A
NG_007121.2:g.58224C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.2147-3C>A (HADHA) MANE Select	ENSP00000370023.3:n.2147-3C>A
ENST00000492433.2:c.2231C>A (HADHA)	ENSP00000438039.2:p.Ser744Ter
ENST00000643057.1:c.*2122C>A (HADHA)	ENSP00000493761.1:n.*2122C>A
ENST00000643063.1:c.*1193-3C>A (HADHA)	ENSP00000495353.1:n.*1193-3C>A
ENST00000643233.1:c.*2038-3C>A (HADHA)	ENSP00000493880.1:n.*2038-3C>A
ENST00000644428.1:c.*771-3C>A (HADHA)	ENSP00000495560.1:n.*771-3C>A
ENST00000645274.1:c.2042-3C>A (HADHA)	ENSP00000493996.1:n.2042-3C>A
ENST00000646031.1:c.1506-3C>A (HADHA)
ENST00000646483.1:c.2013-3C>A (HADHA)	ENSP00000496185.1:n.2013-3C>A
ENST00000380649.7:c.2147-3C>A (HADHA)	ENSP00000370023.3:n.2147-3C>A
ENST00000492433.1:c.689C>A (HADHA)	ENSP00000438039.1:p.Ser230Ter
NM_000182.4:c.2147-3C>A (HADHA)	NP_000173.2:n.2147-3C>A
XM_011532567.1:c.1683+4083G>T (GAREM2)	XP_011530869.1:n.1683+4083G>T
XM_011532567.3:c.1683+4083G>T (GAREM2)	XP_011530869.1:n.1683+4083G>T
NM_000182.5:c.2147-3C>A (HADHA) MANE Select	NP_000173.2:n.2147-3C>A