Canonical Allele Identifier: CA645293995
Gene: BMPR2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202464921_202464939delinsGGAGCATAATCAAA , CM000664.2:g.202464921_202464939delinsGGAGCATAATCAAA GRCh38
NC_000002.11:g.203329644_203329662delinsGGAGCATAATCAAA , CM000664.1:g.203329644_203329662delinsGGAGCATAATCAAA GRCh37
NC_000002.10:g.203037889_203037907delinsGGAGCATAATCAAA NCBI36
NG_009363.1:g.93595_93613delinsGGAGCATAATCAAA , LRG_712:g.93595_93613delinsGGAGCATAATCAAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.189_207delinsGGAGCATAATCAAA MANE Select ENSP00000363708.4:p.Ser64GlufsTer32
ENST00000638587.1:c.114_132delinsGGAGCATAATCAAA ENSP00000491062.1:p.Ser39GlufsTer34
ENST00000374574.2:c.189_207delinsGGAGCATAATCAAA ENSP00000363702.2:p.Ser64GlufsTer32
ENST00000374580.8:c.189_207delinsGGAGCATAATCAAA ENSP00000363708.4:p.Ser64GlufsTer32
ENST00000479069.1:n.96_114delinsGGAGCATAATCAAA
NM_001204.6:c.189_207delinsGGAGCATAATCAAA , LRG_712t1:c.189_207delinsGGAGCATAATCAAA NP_001195.2:p.Ser64GlufsTer32
XM_011511687.1:c.189_207delinsGGAGCATAATCAAA XP_011509989.1:p.Ser64GlufsTer32
XM_011511688.1:c.189_207delinsGGAGCATAATCAAA XP_011509990.1:p.Ser64GlufsTer32
NM_001204.7:c.189_207delinsGGAGCATAATCAAA MANE Select NP_001195.2:p.Ser64GlufsTer32
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