Canonical Allele Identifier: CA645293963
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425969
ClinVar RCV Id: RCV000488726
dbSNP Id: rs1085307370

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202555633dup , CM000664.2:g.202555633dup GRCh38
NC_000002.11:g.203420356dup , CM000664.1:g.203420356dup GRCh37
NC_000002.10:g.203128601dup NCBI36
NG_009363.1:g.184307dup , LRG_712:g.184307dup

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.1968dup MANE Select ENSP00000363708.4:p.Gln657ThrfsTer18
ENST00000638587.1:c.1899dup ENSP00000491062.1:n.1899dup
ENST00000374574.2:c.1586+2745dup ENSP00000363702.2:n.1586+2745dup
ENST00000374580.8:c.1968dup ENSP00000363708.4:p.Gln657ThrfsTer18
NM_001204.6:c.1968dup , LRG_712t1:c.1968dup NP_001195.2:p.Gln657ThrfsTer18
XM_011511687.1:c.1968dup XP_011509989.1:p.Gln657ThrfsTer18
XM_011511688.1:c.1586+2745dup XP_011509990.1:n.1586+2745dup
NM_001204.7:c.1968dup MANE Select NP_001195.2:p.Gln657ThrfsTer18