Canonical Allele Identifier: CA2573134352

Gene: BMPR2

Linked Data

• ClinVar Variation Id: 1379840
• ClinVar RCV Id: RCV001914949
• dbSNP Id: rs2106018181

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202530895del , CM000664.2:g.202530895del	GRCh38
NC_000002.11:g.203395618del , CM000664.1:g.203395618del	GRCh37
NC_000002.10:g.203103863del	NCBI36
NG_009363.1:g.159569del , LRG_712:g.159569del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.1069del MANE Select	ENSP00000363708.4:p.Arg357GlyfsTer2
ENST00000638587.1:c.1000del	ENSP00000491062.1:p.Arg334GlyfsTer2
ENST00000374574.2:c.1069del	ENSP00000363702.2:p.Arg357GlyfsTer2
ENST00000374580.8:c.1069del	ENSP00000363708.4:p.Arg357GlyfsTer2
NM_001204.6:c.1069del , LRG_712t1:c.1069del	NP_001195.2:p.Arg357GlyfsTer2
XM_011511687.1:c.1069del	XP_011509989.1:p.Arg357GlyfsTer2
XM_011511688.1:c.1069del	XP_011509990.1:p.Arg357GlyfsTer2
NM_001204.7:c.1069del MANE Select	NP_001195.2:p.Arg357GlyfsTer2