Canonical Allele Identifier: CA346112188

Gene: HADHA GAREM2

Linked Data

• dbSNP Id: rs1300992068
• gnomAD v2: 2-26414307-G-A
• gnomAD v4: 2-26191438-G-A
• MyVariant Identifiers: chr2:g.26414307G>A (hg19) ; chr2:g.26191438G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191438G>A , CM000664.2:g.26191438G>A	GRCh38
NC_000002.11:g.26414307G>A , CM000664.1:g.26414307G>A	GRCh37
NC_000002.10:g.26267811G>A	NCBI36
NG_007121.1:g.58183C>T
NG_007121.2:g.58184C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.2147-43C>T (HADHA) MANE Select	ENSP00000370023.3:n.2147-43C>T
ENST00000492433.2:c.2191C>T (HADHA)	ENSP00000438039.2:p.Pro731Ser
ENST00000643057.1:c.*2082C>T (HADHA)	ENSP00000493761.1:n.*2082C>T
ENST00000643063.1:c.*1193-43C>T (HADHA)	ENSP00000495353.1:n.*1193-43C>T
ENST00000643233.1:c.*2038-43C>T (HADHA)	ENSP00000493880.1:n.*2038-43C>T
ENST00000644428.1:c.*771-43C>T (HADHA)	ENSP00000495560.1:n.*771-43C>T
ENST00000645274.1:c.2042-43C>T (HADHA)	ENSP00000493996.1:n.2042-43C>T
ENST00000646031.1:c.1506-43C>T (HADHA)
ENST00000646483.1:c.2013-43C>T (HADHA)	ENSP00000496185.1:n.2013-43C>T
ENST00000380649.7:c.2147-43C>T (HADHA)	ENSP00000370023.3:n.2147-43C>T
ENST00000492433.1:c.649C>T (HADHA)	ENSP00000438039.1:p.Pro217Ser
NM_000182.4:c.2147-43C>T (HADHA)	NP_000173.2:n.2147-43C>T
XM_011532567.1:c.1683+4123G>A (GAREM2)	XP_011530869.1:n.1683+4123G>A
XM_011532567.3:c.1683+4123G>A (GAREM2)	XP_011530869.1:n.1683+4123G>A
NM_000182.5:c.2147-43C>T (HADHA) MANE Select	NP_000173.2:n.2147-43C>T