Canonical Allele Identifier: CA915941638

Gene: BMPR2

Linked Data

• ClinVar Variation Id: 812806
• ClinVar RCV Id: RCV001003676
• dbSNP Id: rs1574486038

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202513831dup , CM000664.2:g.202513831dup	GRCh38
NC_000002.11:g.203378554dup , CM000664.1:g.203378554dup	GRCh37
NC_000002.10:g.203086799dup	NCBI36
NG_009363.1:g.142505dup , LRG_712:g.142505dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000374580.10:c.529+2dup MANE Select	ENSP00000363708.4:n.529+2dup
ENST00000638587.1:c.460+2dup	ENSP00000491062.1:n.460+2dup
ENST00000374574.2:c.529+2dup	ENSP00000363702.2:n.529+2dup
ENST00000374580.8:c.529+2dup	ENSP00000363708.4:n.529+2dup
NM_001204.6:c.529+2dup , LRG_712t1:c.529+2dup	NP_001195.2:n.529+2dup
XM_011511687.1:c.529+2dup	XP_011509989.1:n.529+2dup
XM_011511688.1:c.529+2dup	XP_011509990.1:n.529+2dup
NM_001204.7:c.529+2dup MANE Select	NP_001195.2:n.529+2dup