Canonical Allele Identifier: CA915941668

Gene: BMPR2

Linked Data

• ClinVar Variation Id: 812848
• ClinVar RCV Id: RCV001003743
• dbSNP Id: rs1574507290

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202556223_202556224insA , CM000664.2:g.202556223_202556224insA	GRCh38
NC_000002.11:g.203420946_203420947insA , CM000664.1:g.203420946_203420947insA	GRCh37
NC_000002.10:g.203129191_203129192insA	NCBI36
NG_009363.1:g.184897_184898insA , LRG_712:g.184897_184898insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.2558_2559insA MANE Select	ENSP00000363708.4:p.Glu854Ter
ENST00000638587.1:c.2489_2490insA	ENSP00000491062.1:n.2489_2490insA
ENST00000374574.2:c.1586+3335_1586+3336insA	ENSP00000363702.2:n.1586+3335_1586+3336insA
ENST00000374580.8:c.2558_2559insA	ENSP00000363708.4:p.Glu854Ter
NM_001204.6:c.2558_2559insA , LRG_712t1:c.2558_2559insA	NP_001195.2:p.Glu854Ter
XM_011511687.1:c.2558_2559insA	XP_011509989.1:p.Glu854Ter
XM_011511688.1:c.1586+3335_1586+3336insA	XP_011509990.1:n.1586+3335_1586+3336insA
NM_001204.7:c.2558_2559insA MANE Select	NP_001195.2:p.Glu854Ter