Canonical Allele Identifier: CA2586971004
Gene: BMPR2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202514901_202514902del , CM000664.2:g.202514901_202514902del GRCh38
NC_000002.11:g.203379624_203379625del , CM000664.1:g.203379624_203379625del GRCh37
NC_000002.10:g.203087869_203087870del NCBI36
NG_009363.1:g.143575_143576del , LRG_712:g.143575_143576del

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.543_544del MANE Select ENSP00000363708.4:p.Gly182SerfsTer17
ENST00000638587.1:c.474_475del ENSP00000491062.1:p.Gly159SerfsTer17
ENST00000374574.2:c.543_544del ENSP00000363702.2:p.Gly182SerfsTer17
ENST00000374580.8:c.543_544del ENSP00000363708.4:p.Gly182SerfsTer17
NM_001204.6:c.543_544del , LRG_712t1:c.543_544del NP_001195.2:p.Gly182SerfsTer17
XM_011511687.1:c.543_544del XP_011509989.1:p.Gly182SerfsTer17
XM_011511688.1:c.543_544del XP_011509990.1:p.Gly182SerfsTer17
NM_001204.7:c.543_544del MANE Select NP_001195.2:p.Gly182SerfsTer17
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