Canonical Allele Identifier: CA2586965525
Gene: BMPR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202464804_202464807del , CM000664.2:g.202464804_202464807del GRCh38
NC_000002.11:g.203329527_203329530del , CM000664.1:g.203329527_203329530del GRCh37
NC_000002.10:g.203037772_203037775del NCBI36
NG_009363.1:g.93478_93481del , LRG_712:g.93478_93481del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.77-5_77-2del MANE Select ENSP00000363708.4:n.77-5_77-2del
ENST00000374574.2:c.77-5_77-2del ENSP00000363702.2:n.77-5_77-2del
ENST00000374580.8:c.77-5_77-2del ENSP00000363708.4:n.77-5_77-2del
NM_001204.6:c.77-5_77-2del , LRG_712t1:c.77-5_77-2del NP_001195.2:n.77-5_77-2del
XM_011511687.1:c.77-5_77-2del XP_011509989.1:n.77-5_77-2del
XM_011511688.1:c.77-5_77-2del XP_011509990.1:n.77-5_77-2del
NM_001204.7:c.77-5_77-2del MANE Select NP_001195.2:n.77-5_77-2del