Canonical Allele Identifier: CA2499215572

Gene: BMPR2

Linked Data

• ClinVar Variation Id: 1195010
• ClinVar RCV Id: RCV001557935
• dbSNP Id: rs2106018209

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202530917del , CM000664.2:g.202530917del	GRCh38
NC_000002.11:g.203395640del , CM000664.1:g.203395640del	GRCh37
NC_000002.10:g.203103885del	NCBI36
NG_009363.1:g.159591del , LRG_712:g.159591del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.1091del MANE Select	ENSP00000363708.4:p.Val364GlyfsTer11
ENST00000638587.1:c.1022del	ENSP00000491062.1:p.Val341GlyfsTer11
ENST00000374574.2:c.1091del	ENSP00000363702.2:p.Val364GlyfsTer11
ENST00000374580.8:c.1091del	ENSP00000363708.4:p.Val364GlyfsTer11
NM_001204.6:c.1091del , LRG_712t1:c.1091del	NP_001195.2:p.Val364GlyfsTer11
XM_011511687.1:c.1091del	XP_011509989.1:p.Val364GlyfsTer11
XM_011511688.1:c.1091del	XP_011509990.1:p.Val364GlyfsTer11
NM_001204.7:c.1091del MANE Select	NP_001195.2:p.Val364GlyfsTer11