Canonical Allele Identifier: CA915941665

Gene: BMPR2

Linked Data

• ClinVar Variation Id: 812842
• ClinVar RCV Id: RCV001003737
• dbSNP Id: rs1574507076

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202556037_202556038del , CM000664.2:g.202556037_202556038del	GRCh38
NC_000002.11:g.203420760_203420761del , CM000664.1:g.203420760_203420761del	GRCh37
NC_000002.10:g.203129005_203129006del	NCBI36
NG_009363.1:g.184711_184712del , LRG_712:g.184711_184712del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.2372_2373del MANE Select	ENSP00000363708.4:p.Met791LysfsTer21
ENST00000638587.1:c.2303_2304del	ENSP00000491062.1:n.2303_2304del
ENST00000374574.2:c.1586+3149_1586+3150del	ENSP00000363702.2:n.1586+3149_1586+3150del
ENST00000374580.8:c.2372_2373del	ENSP00000363708.4:p.Met791LysfsTer21
NM_001204.6:c.2372_2373del , LRG_712t1:c.2372_2373del	NP_001195.2:p.Met791LysfsTer21
XM_011511687.1:c.2372_2373del	XP_011509989.1:p.Met791LysfsTer21
XM_011511688.1:c.1586+3149_1586+3150del	XP_011509990.1:n.1586+3149_1586+3150del
NM_001204.7:c.2372_2373del MANE Select	NP_001195.2:p.Met791LysfsTer21