Canonical Allele Identifier: CA531391405

Gene: HADHA GAREM2

Linked Data

• dbSNP Id: rs1222770994
• gnomAD v2: 2-26415261-GATA-G
• gnomAD v4: 2-26192392-GATA-G
• MyVariant Identifiers: chr2:g.26415262_26415264del (hg19) ; chr2:g.26192393_26192395del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26192393_26192395del , CM000664.2:g.26192393_26192395del	GRCh38
NC_000002.11:g.26415262_26415264del , CM000664.1:g.26415262_26415264del	GRCh37
NC_000002.10:g.26268766_26268768del	NCBI36
NG_007121.1:g.57226_57228del
NG_007121.2:g.57227_57229del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1915_1917del (HADHA) MANE Select	ENSP00000370023.3:p.Tyr639del
ENST00000492433.2:c.1915_1917del (HADHA)	ENSP00000438039.2:p.Tyr639del
ENST00000643057.1:c.*1806_*1808del (HADHA)	ENSP00000493761.1:n.*1806_*1808del
ENST00000643063.1:c.*961_*963del (HADHA)	ENSP00000495353.1:n.*961_*963del
ENST00000643233.1:c.*1806_*1808del (HADHA)	ENSP00000493880.1:n.*1806_*1808del
ENST00000644428.1:c.*539_*541del (HADHA)	ENSP00000495560.1:n.*539_*541del
ENST00000645274.1:c.1810_1812del (HADHA)	ENSP00000493996.1:p.Tyr604del
ENST00000646031.1:c.1274_1276del (HADHA)
ENST00000646483.1:c.1781_1783del (HADHA)	ENSP00000496185.1:n.1781_1783del
ENST00000380649.7:c.1915_1917del (HADHA)	ENSP00000370023.3:p.Tyr639del
ENST00000492433.1:c.373_375del (HADHA)	ENSP00000438039.1:p.Tyr125del
NM_000182.4:c.1915_1917del (HADHA)	NP_000173.2:p.Tyr639del
XM_011532567.1:c.1683+5078_1683+5080del (GAREM2)	XP_011530869.1:n.1683+5078_1683+5080del
XM_011532567.3:c.1683+5078_1683+5080del (GAREM2)	XP_011530869.1:n.1683+5078_1683+5080del
NM_000182.5:c.1915_1917del (HADHA) MANE Select	NP_000173.2:p.Tyr639del