Canonical Allele Identifier: CA2580065459

Gene: BMPR2

Linked Data

• ClinVar Variation Id: 2110983
• ClinVar RCV Id: RCV003045787

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202556216_202556228del , CM000664.2:g.202556216_202556228del	GRCh38
NC_000002.11:g.203420939_203420951del , CM000664.1:g.203420939_203420951del	GRCh37
NC_000002.10:g.203129184_203129196del	NCBI36
NG_009363.1:g.184890_184902del , LRG_712:g.184890_184902del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.2551_2563del MANE Select	ENSP00000363708.4:p.Phe851ThrfsTer4
ENST00000638587.1:c.2482_2494del	ENSP00000491062.1:n.2482_2494del
ENST00000374574.2:c.1586+3328_1586+3340del	ENSP00000363702.2:n.1586+3328_1586+3340del
ENST00000374580.8:c.2551_2563del	ENSP00000363708.4:p.Phe851ThrfsTer4
NM_001204.6:c.2551_2563del , LRG_712t1:c.2551_2563del	NP_001195.2:p.Phe851ThrfsTer4
XM_011511687.1:c.2551_2563del	XP_011509989.1:p.Phe851ThrfsTer4
XM_011511688.1:c.1586+3328_1586+3340del	XP_011509990.1:n.1586+3328_1586+3340del
NM_001204.7:c.2551_2563del MANE Select	NP_001195.2:p.Phe851ThrfsTer4