Canonical Allele Identifier: CA1321544938
Gene: BMPR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202530920_202530921delinsGC , CM000664.2:g.202530920_202530921delinsGC GRCh38
NC_000002.11:g.203395643_203395644delinsGC , CM000664.1:g.203395643_203395644delinsGC GRCh37
NC_000002.10:g.203103888_203103889delinsGC NCBI36
NG_009363.1:g.159594_159595delinsGC , LRG_712:g.159594_159595delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.1094_1095delinsGC MANE Select ENSP00000363708.4:p.Arg365=
ENST00000638587.1:c.1025_1026delinsGC ENSP00000491062.1:p.Arg342=
ENST00000374574.2:c.1094_1095delinsGC ENSP00000363702.2:p.Arg365=
ENST00000374580.8:c.1094_1095delinsGC ENSP00000363708.4:p.Arg365=
NM_001204.6:c.1094_1095delinsGC , LRG_712t1:c.1094_1095delinsGC NP_001195.2:p.Arg365=
XM_011511687.1:c.1094_1095delinsGC XP_011509989.1:p.Arg365=
XM_011511688.1:c.1094_1095delinsGC XP_011509990.1:p.Arg365=
NM_001204.7:c.1094_1095delinsGC MANE Select NP_001195.2:p.Arg365=