Canonical Allele Identifier: CA2753905657
Gene: BMPR2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202519144_202519145del , CM000664.2:g.202519144_202519145del GRCh38
NC_000002.11:g.203383867_203383868del , CM000664.1:g.203383867_203383868del GRCh37
NC_000002.10:g.203092112_203092113del NCBI36
NG_009363.1:g.147818_147819del , LRG_712:g.147818_147819del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.852+92_852+93del MANE Select ENSP00000363708.4:n.852+92_852+93del
ENST00000638587.1:c.783+92_783+93del ENSP00000491062.1:n.783+92_783+93del
ENST00000374574.2:c.852+92_852+93del ENSP00000363702.2:n.852+92_852+93del
ENST00000374580.8:c.852+92_852+93del ENSP00000363708.4:n.852+92_852+93del
NM_001204.6:c.852+92_852+93del , LRG_712t1:c.852+92_852+93del NP_001195.2:n.852+92_852+93del
XM_011511687.1:c.852+92_852+93del XP_011509989.1:n.852+92_852+93del
XM_011511688.1:c.852+92_852+93del XP_011509990.1:n.852+92_852+93del
NM_001204.7:c.852+92_852+93del MANE Select NP_001195.2:n.852+92_852+93del
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