Canonical Allele Identifier: CA1139657642

Gene: BMPR2

Linked Data

• ClinVar Variation Id: 994099
• ClinVar RCV Id: RCV001813070
• dbSNP Id: rs1690174710

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202377486del , CM000664.2:g.202377486del	GRCh38
NC_000002.11:g.203242209del , CM000664.1:g.203242209del	GRCh37
NC_000002.10:g.202950454del	NCBI36
NG_009363.1:g.6160del , LRG_712:g.6160del

Transcript Alleles

HGVS	Amino-acid change
ENST00000374580.10:c.12del MANE Select	ENSP00000363708.4:p.Leu5CysfsTer?
ENST00000374574.2:c.12del	ENSP00000363702.2:p.Leu5CysfsTer?
ENST00000374580.8:c.12del	ENSP00000363708.4:p.Leu5CysfsTer?
NM_001204.6:c.12del , LRG_712t1:c.12del	NP_001195.2:p.Leu5CysfsTer?
XM_011511687.1:c.12del	XP_011509989.1:p.Leu5CysfsTer?
XM_011511688.1:c.12del	XP_011509990.1:p.Leu5CysfsTer?
NM_001204.7:c.12del MANE Select	NP_001195.2:p.Leu5CysfsTer?