Canonical Allele Identifier: CA915941642
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 812812
ClinVar RCV Id: RCV001003685
dbSNP Id: rs1574488314
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202518857del , CM000664.2:g.202518857del GRCh38
NC_000002.11:g.203383580del , CM000664.1:g.203383580del GRCh37
NC_000002.10:g.203091825del NCBI36
NG_009363.1:g.147531del , LRG_712:g.147531del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.657del MANE Select ENSP00000363708.4:p.Gly220AlafsTer10
ENST00000638587.1:c.588del ENSP00000491062.1:p.Gly197AlafsTer10
ENST00000374574.2:c.657del ENSP00000363702.2:p.Gly220AlafsTer10
ENST00000374580.8:c.657del ENSP00000363708.4:p.Gly220AlafsTer10
NM_001204.6:c.657del , LRG_712t1:c.657del NP_001195.2:p.Gly220AlafsTer10
XM_011511687.1:c.657del XP_011509989.1:p.Gly220AlafsTer10
XM_011511688.1:c.657del XP_011509990.1:p.Gly220AlafsTer10
NM_001204.7:c.657del MANE Select NP_001195.2:p.Gly220AlafsTer10
Search 100 bp 5'
Search 100 bp 3'