Canonical Allele Identifier: CA645293941
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425975
ClinVar RCV Id: RCV000488782
dbSNP Id: rs1085307375

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202555793del , CM000664.2:g.202555793del GRCh38
NC_000002.11:g.203420516del , CM000664.1:g.203420516del GRCh37
NC_000002.10:g.203128761del NCBI36
NG_009363.1:g.184467del , LRG_712:g.184467del

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.2128del MANE Select ENSP00000363708.4:p.Leu710SerfsTer2
ENST00000638587.1:c.2059del ENSP00000491062.1:n.2059del
ENST00000374574.2:c.1586+2905del ENSP00000363702.2:n.1586+2905del
ENST00000374580.8:c.2128del ENSP00000363708.4:p.Leu710SerfsTer2
NM_001204.6:c.2128del , LRG_712t1:c.2128del NP_001195.2:p.Leu710SerfsTer2
XM_011511687.1:c.2128del XP_011509989.1:p.Leu710SerfsTer2
XM_011511688.1:c.1586+2905del XP_011509990.1:n.1586+2905del
NM_001204.7:c.2128del MANE Select NP_001195.2:p.Leu710SerfsTer2