Canonical Allele Identifier: CA2753904551
Gene: BMPR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202465041del , CM000664.2:g.202465041del GRCh38
NC_000002.11:g.203329764del , CM000664.1:g.203329764del GRCh37
NC_000002.10:g.203038009del NCBI36
NG_009363.1:g.93715del , LRG_712:g.93715del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.247+62del MANE Select ENSP00000363708.4:n.247+62del
ENST00000638587.1:c.176+58del ENSP00000491062.1:n.176+58del
ENST00000374574.2:c.247+62del ENSP00000363702.2:n.247+62del
ENST00000374580.8:c.247+62del ENSP00000363708.4:n.247+62del
ENST00000479069.1:n.154+62del
NM_001204.6:c.247+62del , LRG_712t1:c.247+62del NP_001195.2:n.247+62del
XM_011511687.1:c.247+62del XP_011509989.1:n.247+62del
XM_011511688.1:c.247+62del XP_011509990.1:n.247+62del
NM_001204.7:c.247+62del MANE Select NP_001195.2:n.247+62del