Canonical Allele Identifier: CA915941664

Gene: BMPR2

Linked Data

• ClinVar Variation Id: 812841
• ClinVar RCV Id: RCV001003736
• dbSNP Id: rs1574506976

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202555910dup , CM000664.2:g.202555910dup	GRCh38
NC_000002.11:g.203420633dup , CM000664.1:g.203420633dup	GRCh37
NC_000002.10:g.203128878dup	NCBI36
NG_009363.1:g.184584dup , LRG_712:g.184584dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.2245dup MANE Select	ENSP00000363708.4:p.Gln749ProfsTer9
ENST00000638587.1:c.2176dup	ENSP00000491062.1:n.2176dup
ENST00000374574.2:c.1586+3022dup	ENSP00000363702.2:n.1586+3022dup
ENST00000374580.8:c.2245dup	ENSP00000363708.4:p.Gln749ProfsTer9
NM_001204.6:c.2245dup , LRG_712t1:c.2245dup	NP_001195.2:p.Gln749ProfsTer9
XM_011511687.1:c.2245dup	XP_011509989.1:p.Gln749ProfsTer9
XM_011511688.1:c.1586+3022dup	XP_011509990.1:n.1586+3022dup
NM_001204.7:c.2245dup MANE Select	NP_001195.2:p.Gln749ProfsTer9