Canonical Allele Identifier: CA346111391

Gene: HADHA GAREM2

Linked Data

• dbSNP Id: rs1166344679
• gnomAD v2: 2-26414145-T-C
• gnomAD v4: 2-26191276-T-C
• MyVariant Identifiers: chr2:g.26414145T>C (hg19) ; chr2:g.26191276T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191276T>C , CM000664.2:g.26191276T>C	GRCh38
NC_000002.11:g.26414145T>C , CM000664.1:g.26414145T>C	GRCh37
NC_000002.10:g.26267649T>C	NCBI36
NG_007121.1:g.58345A>G
NG_007121.2:g.58346A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.2266A>G (HADHA) MANE Select	ENSP00000370023.3:p.Ser756Gly
ENST00000492433.2:c.2353A>G (HADHA)	ENSP00000438039.2:p.Ser785Gly
ENST00000643057.1:c.*2244A>G (HADHA)	ENSP00000493761.1:n.*2244A>G
ENST00000643063.1:c.*1312A>G (HADHA)	ENSP00000495353.1:n.*1312A>G
ENST00000643233.1:c.*2157A>G (HADHA)	ENSP00000493880.1:n.*2157A>G
ENST00000644428.1:c.*890A>G (HADHA)	ENSP00000495560.1:n.*890A>G
ENST00000645274.1:c.2161A>G (HADHA)	ENSP00000493996.1:p.Ser721Gly
ENST00000646031.1:c.1625A>G (HADHA)
ENST00000646483.1:c.2132A>G (HADHA)	ENSP00000496185.1:n.2132A>G
ENST00000380649.7:c.2266A>G (HADHA)	ENSP00000370023.3:p.Ser756Gly
NM_000182.4:c.2266A>G (HADHA)	NP_000173.2:p.Ser756Gly
XM_011532567.1:c.1683+3961T>C (GAREM2)	XP_011530869.1:n.1683+3961T>C
XM_011532567.3:c.1683+3961T>C (GAREM2)	XP_011530869.1:n.1683+3961T>C
NM_000182.5:c.2266A>G (HADHA) MANE Select	NP_000173.2:p.Ser756Gly