Canonical Allele Identifier: CA645293994
Gene: BMPR2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202464921_202464941del , CM000664.2:g.202464921_202464941del GRCh38
NC_000002.11:g.203329644_203329664del , CM000664.1:g.203329644_203329664del GRCh37
NC_000002.10:g.203037889_203037909del NCBI36
NG_009363.1:g.93595_93615del , LRG_712:g.93595_93615del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.189_209del MANE Select ENSP00000363708.4:p.Ser64_Trp70del
ENST00000638587.1:c.114_134del ENSP00000491062.1:p.Ser39_Trp45del
ENST00000374574.2:c.189_209del ENSP00000363702.2:p.Ser64_Trp70del
ENST00000374580.8:c.189_209del ENSP00000363708.4:p.Ser64_Trp70del
ENST00000479069.1:n.96_116del
NM_001204.6:c.189_209del , LRG_712t1:c.189_209del NP_001195.2:p.Ser64_Trp70del
XM_011511687.1:c.189_209del XP_011509989.1:p.Ser64_Trp70del
XM_011511688.1:c.189_209del XP_011509990.1:p.Ser64_Trp70del
NM_001204.7:c.189_209del MANE Select NP_001195.2:p.Ser64_Trp70del
Search 100 bp 5'
Search 100 bp 3'