Canonical Allele Identifier: CA2577215520
Gene: BMPR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202467700del , CM000664.2:g.202467700del GRCh38
NC_000002.11:g.203332423del , CM000664.1:g.203332423del GRCh37
NC_000002.10:g.203040668del NCBI36
NG_009363.1:g.96374del , LRG_712:g.96374del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.418+11del MANE Select ENSP00000363708.4:n.418+11del
ENST00000638587.1:c.349+11del ENSP00000491062.1:n.349+11del
ENST00000374574.2:c.418+11del ENSP00000363702.2:n.418+11del
ENST00000374580.8:c.418+11del ENSP00000363708.4:n.418+11del
ENST00000479069.1:n.325+11del
NM_001204.6:c.418+11del , LRG_712t1:c.418+11del NP_001195.2:n.418+11del
XM_011511687.1:c.418+11del XP_011509989.1:n.418+11del
XM_011511688.1:c.418+11del XP_011509990.1:n.418+11del
NM_001204.7:c.418+11del MANE Select NP_001195.2:n.418+11del