Canonical Allele Identifier: CA346114658

Gene: HADHA GAREM2

Linked Data

• dbSNP Id: rs1669532360
• gnomAD v4: 2-26192348-A-C
• MyVariant Identifiers: chr2:g.26415217A>C (hg19) ; chr2:g.26192348A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26192348A>C , CM000664.2:g.26192348A>C	GRCh38
NC_000002.11:g.26415217A>C , CM000664.1:g.26415217A>C	GRCh37
NC_000002.10:g.26268721A>C	NCBI36
NG_007121.1:g.57273T>G
NG_007121.2:g.57274T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000380649.8:c.1962T>G (HADHA) MANE Select	ENSP00000370023.3:p.Ser654Arg
ENST00000492433.2:c.1962T>G (HADHA)	ENSP00000438039.2:p.Ser654Arg
ENST00000643057.1:c.*1853T>G (HADHA)	ENSP00000493761.1:n.*1853T>G
ENST00000643063.1:c.*1008T>G (HADHA)	ENSP00000495353.1:n.*1008T>G
ENST00000643233.1:c.*1853T>G (HADHA)	ENSP00000493880.1:n.*1853T>G
ENST00000644428.1:c.*586T>G (HADHA)	ENSP00000495560.1:n.*586T>G
ENST00000645274.1:c.1857T>G (HADHA)	ENSP00000493996.1:p.Ser619Arg
ENST00000646031.1:c.1321T>G (HADHA)
ENST00000646483.1:c.1828T>G (HADHA)	ENSP00000496185.1:n.1828T>G
ENST00000380649.7:c.1962T>G (HADHA)	ENSP00000370023.3:p.Ser654Arg
ENST00000492433.1:c.420T>G (HADHA)	ENSP00000438039.1:p.Ser140Arg
NM_000182.4:c.1962T>G (HADHA)	NP_000173.2:p.Ser654Arg
XM_011532567.1:c.1683+5033A>C (GAREM2)	XP_011530869.1:n.1683+5033A>C
XM_011532567.3:c.1683+5033A>C (GAREM2)	XP_011530869.1:n.1683+5033A>C
NM_000182.5:c.1962T>G (HADHA) MANE Select	NP_000173.2:p.Ser654Arg