Canonical Allele Identifier: CA2577215681
Gene: BMPR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202532811del , CM000664.2:g.202532811del GRCh38
NC_000002.11:g.203397534del , CM000664.1:g.203397534del GRCh37
NC_000002.10:g.203105779del NCBI36
NG_009363.1:g.161485del , LRG_712:g.161485del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.1276+79del MANE Select ENSP00000363708.4:n.1276+79del
ENST00000638587.1:c.1207+79del ENSP00000491062.1:n.1207+79del
ENST00000374574.2:c.1276+79del ENSP00000363702.2:n.1276+79del
ENST00000374580.8:c.1276+79del ENSP00000363708.4:n.1276+79del
NM_001204.6:c.1276+79del , LRG_712t1:c.1276+79del NP_001195.2:n.1276+79del
XM_011511687.1:c.1276+79del XP_011509989.1:n.1276+79del
XM_011511688.1:c.1276+79del XP_011509990.1:n.1276+79del
NM_001204.7:c.1276+79del MANE Select NP_001195.2:n.1276+79del