Canonical Allele Identifier: CA2573051843

Gene: BMPR2

Linked Data

• ClinVar Variation Id: 1339362
• ClinVar RCV Id: RCV001823958
• dbSNP Id: rs2105712531

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202556316_202556317insAT , CM000664.2:g.202556316_202556317insAT	GRCh38
NC_000002.11:g.203421039_203421040insAT , CM000664.1:g.203421039_203421040insAT	GRCh37
NC_000002.10:g.203129284_203129285insAT	NCBI36
NG_009363.1:g.184990_184991insAT , LRG_712:g.184990_184991insAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.2651_2652insAT MANE Select	ENSP00000363708.4:p.Asp885TrpfsTer12
ENST00000638587.1:c.2582_2583insAT	ENSP00000491062.1:n.2582_2583insAT
ENST00000374574.2:c.1587-3380_1587-3379insAT	ENSP00000363702.2:n.1587-3380_1587-3379insAT
ENST00000374580.8:c.2651_2652insAT	ENSP00000363708.4:p.Asp885TrpfsTer12
NM_001204.6:c.2651_2652insAT , LRG_712t1:c.2651_2652insAT	NP_001195.2:p.Asp885TrpfsTer12
XM_011511687.1:c.2651_2652insAT	XP_011509989.1:p.Asp885TrpfsTer12
XM_011511688.1:c.1587-3380_1587-3379insAT	XP_011509990.1:n.1587-3380_1587-3379insAT
NM_001204.7:c.2651_2652insAT MANE Select	NP_001195.2:p.Asp885TrpfsTer12