Canonical Allele Identifier: CA915942367

Gene: BMPR2

Linked Data

• ClinVar Variation Id: 813011
• ClinVar RCV Id: RCV001004023
• dbSNP Id: rs1574415785

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202377493del , CM000664.2:g.202377493del	GRCh38
NC_000002.11:g.203242216del , CM000664.1:g.203242216del	GRCh37
NC_000002.10:g.202950461del	NCBI36
NG_009363.1:g.6167del , LRG_712:g.6167del

Transcript Alleles

HGVS	Amino-acid change
ENST00000374580.10:c.19del MANE Select	ENSP00000363708.4:p.Arg7GlyfsTer?
ENST00000374574.2:c.19del	ENSP00000363702.2:p.Arg7GlyfsTer?
ENST00000374580.8:c.19del	ENSP00000363708.4:p.Arg7GlyfsTer?
NM_001204.6:c.19del , LRG_712t1:c.19del	NP_001195.2:p.Arg7GlyfsTer?
XM_011511687.1:c.19del	XP_011509989.1:p.Arg7GlyfsTer?
XM_011511688.1:c.19del	XP_011509990.1:p.Arg7GlyfsTer?
NM_001204.7:c.19del MANE Select	NP_001195.2:p.Arg7GlyfsTer?