Canonical Allele Identifier: CA1559306

Gene: HADHA GAREM2

Linked Data

• dbSNP Id: rs751349213
• ExAC: 2:26414097 C / T
• gnomAD v3: 2-26191228-C-T
• gnomAD v4: 2-26191228-C-T
• MyVariant Identifiers: chr2:g.26414097C>T (hg19) ; chr2:g.26191228C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191228C>T , CM000664.2:g.26191228C>T	GRCh38
NC_000002.11:g.26414097C>T , CM000664.1:g.26414097C>T	GRCh37
NC_000002.10:g.26267601C>T	NCBI36
NG_007121.1:g.58393G>A
NG_007121.2:g.58394G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.*22G>A (HADHA) MANE Select	ENSP00000370023.3:n.*22G>A
ENST00000492433.2:c.*22G>A (HADHA)	ENSP00000438039.2:n.*22G>A
ENST00000643057.1:c.*2292G>A (HADHA)	ENSP00000493761.1:n.*2292G>A
ENST00000643063.1:c.*1360G>A (HADHA)	ENSP00000495353.1:n.*1360G>A
ENST00000643233.1:c.*2205G>A (HADHA)	ENSP00000493880.1:n.*2205G>A
ENST00000644428.1:c.*938G>A (HADHA)	ENSP00000495560.1:n.*938G>A
ENST00000645274.1:c.*22G>A (HADHA)	ENSP00000493996.1:n.*22G>A
ENST00000646031.1:c.1673G>A (HADHA)
ENST00000380649.7:c.*22G>A (HADHA)	ENSP00000370023.3:n.*22G>A
NM_000182.4:c.*22G>A (HADHA)	NP_000173.2:n.*22G>A
XM_011532567.1:c.1683+3913C>T (GAREM2)	XP_011530869.1:n.1683+3913C>T
XM_011532567.3:c.1683+3913C>T (GAREM2)	XP_011530869.1:n.1683+3913C>T
NM_000182.5:c.*22G>A (HADHA) MANE Select	NP_000173.2:n.*22G>A