Canonical Allele Identifier: CA645293808
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425811
ClinVar RCV Id: RCV000488556
dbSNP Id: rs1085307248

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202518859dup , CM000664.2:g.202518859dup GRCh38
NC_000002.11:g.203383582dup , CM000664.1:g.203383582dup GRCh37
NC_000002.10:g.203091827dup NCBI36
NG_009363.1:g.147533dup , LRG_712:g.147533dup

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.659dup MANE Select ENSP00000363708.4:p.Ser221LeufsTer4
ENST00000638587.1:c.590dup ENSP00000491062.1:p.Ser198LeufsTer4
ENST00000374574.2:c.659dup ENSP00000363702.2:p.Ser221LeufsTer4
ENST00000374580.8:c.659dup ENSP00000363708.4:p.Ser221LeufsTer4
NM_001204.6:c.659dup , LRG_712t1:c.659dup NP_001195.2:p.Ser221LeufsTer4
XM_011511687.1:c.659dup XP_011509989.1:p.Ser221LeufsTer4
XM_011511688.1:c.659dup XP_011509990.1:p.Ser221LeufsTer4
NM_001204.7:c.659dup MANE Select NP_001195.2:p.Ser221LeufsTer4