Canonical Allele Identifier: CA1321556950
Gene: BMPR2 HGNC NCBI

Linked Data

dbSNP Id: rs1688511032

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202553135_202553138del , CM000664.2:g.202553135_202553138del GRCh38
NC_000002.11:g.203417858_203417861del , CM000664.1:g.203417858_203417861del GRCh37
NC_000002.10:g.203126103_203126106del NCBI36
NG_009363.1:g.181809_181812del , LRG_712:g.181809_181812del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.1586+247_1586+250del MANE Select ENSP00000363708.4:n.1586+247_1586+250del
ENST00000638587.1:c.1517+247_1517+250del ENSP00000491062.1:n.1517+247_1517+250del
ENST00000374574.2:c.1586+247_1586+250del ENSP00000363702.2:n.1586+247_1586+250del
ENST00000374580.8:c.1586+247_1586+250del ENSP00000363708.4:n.1586+247_1586+250del
NM_001204.6:c.1586+247_1586+250del , LRG_712t1:c.1586+247_1586+250del NP_001195.2:n.1586+247_1586+250del
XM_011511687.1:c.1586+247_1586+250del XP_011509989.1:n.1586+247_1586+250del
XM_011511688.1:c.1586+247_1586+250del XP_011509990.1:n.1586+247_1586+250del
NM_001204.7:c.1586+247_1586+250del MANE Select NP_001195.2:n.1586+247_1586+250del