Canonical Allele Identifier: CA645294010
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425764
ClinVar RCV Id: RCV000488841
dbSNP Id: rs1085307213

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202467616_202467617del , CM000664.2:g.202467616_202467617del GRCh38
NC_000002.11:g.203332339_203332340del , CM000664.1:g.203332339_203332340del GRCh37
NC_000002.10:g.203040584_203040585del NCBI36
NG_009363.1:g.96290_96291del , LRG_712:g.96290_96291del

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.345_346del MANE Select ENSP00000363708.4:p.Phe115LeufsTer4
ENST00000638587.1:c.276_277del ENSP00000491062.1:p.Phe92LeufsTer4
ENST00000374574.2:c.345_346del ENSP00000363702.2:p.Phe115LeufsTer4
ENST00000374580.8:c.345_346del ENSP00000363708.4:p.Phe115LeufsTer4
ENST00000479069.1:n.252_253del
NM_001204.6:c.345_346del , LRG_712t1:c.345_346del NP_001195.2:p.Phe115LeufsTer4
XM_011511687.1:c.345_346del XP_011509989.1:p.Phe115LeufsTer4
XM_011511688.1:c.345_346del XP_011509990.1:p.Phe115LeufsTer4
NM_001204.7:c.345_346del MANE Select NP_001195.2:p.Phe115LeufsTer4