Canonical Allele Identifier: CA2753905653
Gene: BMPR2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202519124_202519125del , CM000664.2:g.202519124_202519125del GRCh38
NC_000002.11:g.203383847_203383848del , CM000664.1:g.203383847_203383848del GRCh37
NC_000002.10:g.203092092_203092093del NCBI36
NG_009363.1:g.147798_147799del , LRG_712:g.147798_147799del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.852+72_852+73del MANE Select ENSP00000363708.4:n.852+72_852+73del
ENST00000638587.1:c.783+72_783+73del ENSP00000491062.1:n.783+72_783+73del
ENST00000374574.2:c.852+72_852+73del ENSP00000363702.2:n.852+72_852+73del
ENST00000374580.8:c.852+72_852+73del ENSP00000363708.4:n.852+72_852+73del
NM_001204.6:c.852+72_852+73del , LRG_712t1:c.852+72_852+73del NP_001195.2:n.852+72_852+73del
XM_011511687.1:c.852+72_852+73del XP_011509989.1:n.852+72_852+73del
XM_011511688.1:c.852+72_852+73del XP_011509990.1:n.852+72_852+73del
NM_001204.7:c.852+72_852+73del MANE Select NP_001195.2:n.852+72_852+73del
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