Canonical Allele Identifier: CA2586971020
Gene: BMPR2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202556187del , CM000664.2:g.202556187del GRCh38
NC_000002.11:g.203420910del , CM000664.1:g.203420910del GRCh37
NC_000002.10:g.203129155del NCBI36
NG_009363.1:g.184861del , LRG_712:g.184861del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.2522del MANE Select ENSP00000363708.4:p.His841LeufsTer18
ENST00000638587.1:c.2453del ENSP00000491062.1:n.2453del
ENST00000374574.2:c.1586+3299del ENSP00000363702.2:n.1586+3299del
ENST00000374580.8:c.2522del ENSP00000363708.4:p.His841LeufsTer18
NM_001204.6:c.2522del , LRG_712t1:c.2522del NP_001195.2:p.His841LeufsTer18
XM_011511687.1:c.2522del XP_011509989.1:p.His841LeufsTer18
XM_011511688.1:c.1586+3299del XP_011509990.1:n.1586+3299del
NM_001204.7:c.2522del MANE Select NP_001195.2:p.His841LeufsTer18
Search 100 bp 5'
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