Canonical Allele Identifier: CA1321507528

Gene: BMPR2

Linked Data

• dbSNP Id: rs1692287123

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202464834dup , CM000664.2:g.202464834dup	GRCh38
NC_000002.11:g.203329557dup , CM000664.1:g.203329557dup	GRCh37
NC_000002.10:g.203037802dup	NCBI36
NG_009363.1:g.93508dup , LRG_712:g.93508dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.102dup MANE Select	ENSP00000363708.4:p.Ala35CysfsTer3
ENST00000638587.1:c.27dup	ENSP00000491062.1:p.Ala10CysfsTer3
ENST00000374574.2:c.102dup	ENSP00000363702.2:p.Ala35CysfsTer3
ENST00000374580.8:c.102dup	ENSP00000363708.4:p.Ala35CysfsTer3
ENST00000479069.1:n.9dup
NM_001204.6:c.102dup , LRG_712t1:c.102dup	NP_001195.2:p.Ala35CysfsTer3
XM_011511687.1:c.102dup	XP_011509989.1:p.Ala35CysfsTer3
XM_011511688.1:c.102dup	XP_011509990.1:p.Ala35CysfsTer3
NM_001204.7:c.102dup MANE Select	NP_001195.2:p.Ala35CysfsTer3