Canonical Allele Identifier: CA645293830
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425908
ClinVar RCV Id: RCV000488526
dbSNP Id: rs1085307326

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202532724dup , CM000664.2:g.202532724dup GRCh38
NC_000002.11:g.203397447dup , CM000664.1:g.203397447dup GRCh37
NC_000002.10:g.203105692dup NCBI36
NG_009363.1:g.161398dup , LRG_712:g.161398dup

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.1268dup MANE Select ENSP00000363708.4:p.Phe424LeufsTer24
ENST00000638587.1:c.1199dup ENSP00000491062.1:p.Phe401LeufsTer24
ENST00000374574.2:c.1268dup ENSP00000363702.2:p.Phe424LeufsTer24
ENST00000374580.8:c.1268dup ENSP00000363708.4:p.Phe424LeufsTer24
NM_001204.6:c.1268dup , LRG_712t1:c.1268dup NP_001195.2:p.Phe424LeufsTer24
XM_011511687.1:c.1268dup XP_011509989.1:p.Phe424LeufsTer24
XM_011511688.1:c.1268dup XP_011509990.1:p.Phe424LeufsTer24
NM_001204.7:c.1268dup MANE Select NP_001195.2:p.Phe424LeufsTer24