Canonical Allele Identifier: CA346117944

Gene: HADHA GAREM2

Linked Data

• MyVariant Identifiers: chr2:g.26193669_26193670del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26193670_26193671del , CM000664.2:g.26193670_26193671del	GRCh38
NC_000002.11:g.26416539_26416540del , CM000664.1:g.26416539_26416540del	GRCh37
NC_000002.10:g.26270043_26270044del	NCBI36
NG_007121.1:g.55951_55952del
NG_007121.2:g.55952_55953del

Transcript Alleles

HGVS	Amino-acid change
ENST00000380649.8:c.1792_1793del (HADHA) MANE Select	ENSP00000370023.3:p.His598CysfsTer?
ENST00000492433.2:c.1792_1793del (HADHA)	ENSP00000438039.2:p.His598CysfsTer?
ENST00000643057.1:c.*1683_*1684del (HADHA)	ENSP00000493761.1:n.*1683_*1684del
ENST00000643063.1:c.*838_*839del (HADHA)	ENSP00000495353.1:n.*838_*839del
ENST00000643233.1:c.*1683_*1684del (HADHA)	ENSP00000493880.1:n.*1683_*1684del
ENST00000644428.1:c.*416_*417del (HADHA)	ENSP00000495560.1:n.*416_*417del
ENST00000645274.1:c.1687_1688del (HADHA)	ENSP00000493996.1:p.His563CysfsTer?
ENST00000646031.1:c.1151_1152del (HADHA)
ENST00000646483.1:c.1658_1659del (HADHA)	ENSP00000496185.1:n.1658_1659del
ENST00000380649.7:c.1792_1793del (HADHA)	ENSP00000370023.3:p.His598CysfsTer?
ENST00000492433.1:c.250_251del (HADHA)	ENSP00000438039.1:p.His84CysfsTer?
NM_000182.4:c.1792_1793del (HADHA)	NP_000173.2:p.His598CysfsTer?
XM_011532567.1:c.1683+6355_1683+6356del (GAREM2)	XP_011530869.1:n.1683+6355_1683+6356del
XM_011532567.3:c.1683+6355_1683+6356del (GAREM2)	XP_011530869.1:n.1683+6355_1683+6356del
NM_000182.5:c.1792_1793del (HADHA) MANE Select	NP_000173.2:p.His598CysfsTer?