Canonical Allele Identifier: CA645293976
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425871
dbSNP Id: rs1085307296

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202530923del , CM000664.2:g.202530923del GRCh38
NC_000002.11:g.203395646del , CM000664.1:g.203395646del GRCh37
NC_000002.10:g.203103891del NCBI36
NG_009363.1:g.159597del , LRG_712:g.159597del

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.1097del MANE Select ENSP00000363708.4:p.Pro366GlnfsTer9
ENST00000638587.1:c.1028del ENSP00000491062.1:p.Pro343GlnfsTer9
ENST00000374574.2:c.1097del ENSP00000363702.2:p.Pro366GlnfsTer9
ENST00000374580.8:c.1097del ENSP00000363708.4:p.Pro366GlnfsTer9
NM_001204.6:c.1097del , LRG_712t1:c.1097del NP_001195.2:p.Pro366GlnfsTer9
XM_011511687.1:c.1097del XP_011509989.1:p.Pro366GlnfsTer9
XM_011511688.1:c.1097del XP_011509990.1:p.Pro366GlnfsTer9
NM_001204.7:c.1097del MANE Select NP_001195.2:p.Pro366GlnfsTer9