Canonical Allele Identifier: CA2586965531
Gene: BMPR2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202464912_202464914del , CM000664.2:g.202464912_202464914del GRCh38
NC_000002.11:g.203329635_203329637del , CM000664.1:g.203329635_203329637del GRCh37
NC_000002.10:g.203037880_203037882del NCBI36
NG_009363.1:g.93586_93588del , LRG_712:g.93586_93588del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.180_182del MANE Select ENSP00000363708.4:p.Cys60_Ser61delinsTrp
ENST00000638587.1:c.105_107del ENSP00000491062.1:p.Cys35_Ser36delinsTrp
ENST00000374574.2:c.180_182del ENSP00000363702.2:p.Cys60_Ser61delinsTrp
ENST00000374580.8:c.180_182del ENSP00000363708.4:p.Cys60_Ser61delinsTrp
ENST00000479069.1:n.87_89del
NM_001204.6:c.180_182del , LRG_712t1:c.180_182del NP_001195.2:p.Cys60_Ser61delinsTrp
XM_011511687.1:c.180_182del XP_011509989.1:p.Cys60_Ser61delinsTrp
XM_011511688.1:c.180_182del XP_011509990.1:p.Cys60_Ser61delinsTrp
NM_001204.7:c.180_182del MANE Select NP_001195.2:p.Cys60_Ser61delinsTrp
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