Canonical Allele Identifier: CA2573134356

Gene: BMPR2

Linked Data

• ClinVar Variation Id: 1424050
• ClinVar RCV Id: RCV001921367
• dbSNP Id: rs2106030892

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202542366dup , CM000664.2:g.202542366dup	GRCh38
NC_000002.11:g.203407089dup , CM000664.1:g.203407089dup	GRCh37
NC_000002.10:g.203115334dup	NCBI36
NG_009363.1:g.171040dup , LRG_712:g.171040dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.1332dup MANE Select	ENSP00000363708.4:p.Thr445HisfsTer3
ENST00000638587.1:c.1263dup	ENSP00000491062.1:p.Thr422HisfsTer3
ENST00000374574.2:c.1332dup	ENSP00000363702.2:p.Thr445HisfsTer3
ENST00000374580.8:c.1332dup	ENSP00000363708.4:p.Thr445HisfsTer3
NM_001204.6:c.1332dup , LRG_712t1:c.1332dup	NP_001195.2:p.Thr445HisfsTer3
XM_011511687.1:c.1332dup	XP_011509989.1:p.Thr445HisfsTer3
XM_011511688.1:c.1332dup	XP_011509990.1:p.Thr445HisfsTer3
NM_001204.7:c.1332dup MANE Select	NP_001195.2:p.Thr445HisfsTer3