Canonical Allele Identifier: CA915941643
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 812813
ClinVar RCV Id: RCV001003686
dbSNP Id: rs1574488346
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202518883del , CM000664.2:g.202518883del GRCh38
NC_000002.11:g.203383606del , CM000664.1:g.203383606del GRCh37
NC_000002.10:g.203091851del NCBI36
NG_009363.1:g.147557del , LRG_712:g.147557del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.683del MANE Select ENSP00000363708.4:p.Ala228ValfsTer2
ENST00000638587.1:c.614del ENSP00000491062.1:p.Ala205ValfsTer2
ENST00000374574.2:c.683del ENSP00000363702.2:p.Ala228ValfsTer2
ENST00000374580.8:c.683del ENSP00000363708.4:p.Ala228ValfsTer2
NM_001204.6:c.683del , LRG_712t1:c.683del NP_001195.2:p.Ala228ValfsTer2
XM_011511687.1:c.683del XP_011509989.1:p.Ala228ValfsTer2
XM_011511688.1:c.683del XP_011509990.1:p.Ala228ValfsTer2
NM_001204.7:c.683del MANE Select NP_001195.2:p.Ala228ValfsTer2
Search 100 bp 5'
Search 100 bp 3'