Canonical Allele Identifier: CA2586970993
Gene: BMPR2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202377523del , CM000664.2:g.202377523del GRCh38
NC_000002.11:g.203242246del , CM000664.1:g.203242246del GRCh37
NC_000002.10:g.202950491del NCBI36
NG_009363.1:g.6197del , LRG_712:g.6197del

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.49del MANE Select ENSP00000363708.4:p.Thr17ProfsTer30
ENST00000374574.2:c.49del ENSP00000363702.2:p.Thr17ProfsTer30
ENST00000374580.8:c.49del ENSP00000363708.4:p.Thr17ProfsTer30
NM_001204.6:c.49del , LRG_712t1:c.49del NP_001195.2:p.Thr17ProfsTer30
XM_011511687.1:c.49del XP_011509989.1:p.Thr17ProfsTer30
XM_011511688.1:c.49del XP_011509990.1:p.Thr17ProfsTer30
NM_001204.7:c.49del MANE Select NP_001195.2:p.Thr17ProfsTer30
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