Canonical Allele Identifier: CA1321556949
Gene: BMPR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202553131_202553135delinsCTATT , CM000664.2:g.202553131_202553135delinsCTATT GRCh38
NC_000002.11:g.203417854_203417858delinsCTATT , CM000664.1:g.203417854_203417858delinsCTATT GRCh37
NC_000002.10:g.203126099_203126103delinsCTATT NCBI36
NG_009363.1:g.181805_181809delinsCTATT , LRG_712:g.181805_181809delinsCTATT

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.1586+243_1586+247delinsCTATT MANE Select ENSP00000363708.4:n.1586+243_1586+247delinsCTATT
ENST00000638587.1:c.1517+243_1517+247delinsCTATT ENSP00000491062.1:n.1517+243_1517+247delinsCTATT
ENST00000374574.2:c.1586+243_1586+247delinsCTATT ENSP00000363702.2:n.1586+243_1586+247delinsCTATT
ENST00000374580.8:c.1586+243_1586+247delinsCTATT ENSP00000363708.4:n.1586+243_1586+247delinsCTATT
NM_001204.6:c.1586+243_1586+247delinsCTATT , LRG_712t1:c.1586+243_1586+247delinsCTATT NP_001195.2:n.1586+243_1586+247delinsCTATT
XM_011511687.1:c.1586+243_1586+247delinsCTATT XP_011509989.1:n.1586+243_1586+247delinsCTATT
XM_011511688.1:c.1586+243_1586+247delinsCTATT XP_011509990.1:n.1586+243_1586+247delinsCTATT
NM_001204.7:c.1586+243_1586+247delinsCTATT MANE Select NP_001195.2:n.1586+243_1586+247delinsCTATT