Canonical Allele Identifier: CA915941644
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 812814
ClinVar RCV Id: RCV001003687
dbSNP Id: rs1574488353
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202518887_202518893del , CM000664.2:g.202518887_202518893del GRCh38
NC_000002.11:g.203383610_203383616del , CM000664.1:g.203383610_203383616del GRCh37
NC_000002.10:g.203091855_203091861del NCBI36
NG_009363.1:g.147561_147567del , LRG_712:g.147561_147567del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.687_693del MANE Select ENSP00000363708.4:p.Lys230PhefsTer20
ENST00000638587.1:c.618_624del ENSP00000491062.1:p.Lys207PhefsTer20
ENST00000374574.2:c.687_693del ENSP00000363702.2:p.Lys230PhefsTer20
ENST00000374580.8:c.687_693del ENSP00000363708.4:p.Lys230PhefsTer20
NM_001204.6:c.687_693del , LRG_712t1:c.687_693del NP_001195.2:p.Lys230PhefsTer20
XM_011511687.1:c.687_693del XP_011509989.1:p.Lys230PhefsTer20
XM_011511688.1:c.687_693del XP_011509990.1:p.Lys230PhefsTer20
NM_001204.7:c.687_693del MANE Select NP_001195.2:p.Lys230PhefsTer20
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