Canonical Allele Identifier: CA645293819
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425827
ClinVar RCV Id: RCV000488507
dbSNP Id: rs1085307262

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202519002dup , CM000664.2:g.202519002dup GRCh38
NC_000002.11:g.203383725dup , CM000664.1:g.203383725dup GRCh37
NC_000002.10:g.203091970dup NCBI36
NG_009363.1:g.147676dup , LRG_712:g.147676dup

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.802dup MANE Select ENSP00000363708.4:p.Thr268AsnfsTer30
ENST00000638587.1:c.733dup ENSP00000491062.1:p.Thr245AsnfsTer30
ENST00000374574.2:c.802dup ENSP00000363702.2:p.Thr268AsnfsTer30
ENST00000374580.8:c.802dup ENSP00000363708.4:p.Thr268AsnfsTer30
NM_001204.6:c.802dup , LRG_712t1:c.802dup NP_001195.2:p.Thr268AsnfsTer30
XM_011511687.1:c.802dup XP_011509989.1:p.Thr268AsnfsTer30
XM_011511688.1:c.802dup XP_011509990.1:p.Thr268AsnfsTer30
NM_001204.7:c.802dup MANE Select NP_001195.2:p.Thr268AsnfsTer30