Canonical Allele Identifier: CA645293969
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425858
dbSNP Id: rs1085307283

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202530795dup , CM000664.2:g.202530795dup GRCh38
NC_000002.11:g.203395518dup , CM000664.1:g.203395518dup GRCh37
NC_000002.10:g.203103763dup NCBI36
NG_009363.1:g.159469dup , LRG_712:g.159469dup

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.969dup MANE Select ENSP00000363708.4:p.His324SerfsTer3
ENST00000638587.1:c.900dup ENSP00000491062.1:p.His301SerfsTer3
ENST00000374574.2:c.969dup ENSP00000363702.2:p.His324SerfsTer3
ENST00000374580.8:c.969dup ENSP00000363708.4:p.His324SerfsTer3
NM_001204.6:c.969dup , LRG_712t1:c.969dup NP_001195.2:p.His324SerfsTer3
XM_011511687.1:c.969dup XP_011509989.1:p.His324SerfsTer3
XM_011511688.1:c.969dup XP_011509990.1:p.His324SerfsTer3
NM_001204.7:c.969dup MANE Select NP_001195.2:p.His324SerfsTer3