Canonical Allele Identifier: CA915941499

Gene: BMPR2

Linked Data

• ClinVar Variation Id: 812799
• ClinVar RCV Id: RCV001003661
• dbSNP Id: rs1574464121
• gnomAD v4: 2-202467583-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202467585del , CM000664.2:g.202467585del	GRCh38
NC_000002.11:g.203332308del , CM000664.1:g.203332308del	GRCh37
NC_000002.10:g.203040553del	NCBI36
NG_009363.1:g.96259del , LRG_712:g.96259del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.314del MANE Select	ENSP00000363708.4:p.Pro105LeufsTer?
ENST00000638587.1:c.245del	ENSP00000491062.1:p.Pro82LeufsTer?
ENST00000374574.2:c.314del	ENSP00000363702.2:p.Pro105LeufsTer?
ENST00000374580.8:c.314del	ENSP00000363708.4:p.Pro105LeufsTer?
ENST00000479069.1:n.221del
NM_001204.6:c.314del , LRG_712t1:c.314del	NP_001195.2:p.Pro105LeufsTer?
XM_011511687.1:c.314del	XP_011509989.1:p.Pro105LeufsTer?
XM_011511688.1:c.314del	XP_011509990.1:p.Pro105LeufsTer?
NM_001204.7:c.314del MANE Select	NP_001195.2:p.Pro105LeufsTer?