Canonical Allele Identifier: CA916082274

Gene: BMPR2

Linked Data

• ClinVar Variation Id: 836469
• ClinVar RCV Id: RCV001037606
• dbSNP Id: rs1687663690

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202513743del , CM000664.2:g.202513743del	GRCh38
NC_000002.11:g.203378466del , CM000664.1:g.203378466del	GRCh37
NC_000002.10:g.203086711del	NCBI36
NG_009363.1:g.142417del , LRG_712:g.142417del

Transcript Alleles

HGVS	Amino-acid change
ENST00000374580.10:c.443del MANE Select	ENSP00000363708.4:p.Asp148ValfsTer4
ENST00000638587.1:c.374del	ENSP00000491062.1:p.Asp125ValfsTer4
ENST00000374574.2:c.443del	ENSP00000363702.2:p.Asp148ValfsTer4
ENST00000374580.8:c.443del	ENSP00000363708.4:p.Asp148ValfsTer4
NM_001204.6:c.443del , LRG_712t1:c.443del	NP_001195.2:p.Asp148ValfsTer4
XM_011511687.1:c.443del	XP_011509989.1:p.Asp148ValfsTer4
XM_011511688.1:c.443del	XP_011509990.1:p.Asp148ValfsTer4
NM_001204.7:c.443del MANE Select	NP_001195.2:p.Asp148ValfsTer4