Canonical Allele Identifier: CA2586965527

Gene: BMPR2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202464850dup , CM000664.2:g.202464850dup	GRCh38
NC_000002.11:g.203329573dup , CM000664.1:g.203329573dup	GRCh37
NC_000002.10:g.203037818dup	NCBI36
NG_009363.1:g.93524dup , LRG_712:g.93524dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.118dup MANE Select	ENSP00000363708.4:p.Tyr40LeufsTer9
ENST00000638587.1:c.43dup	ENSP00000491062.1:p.Tyr15LeufsTer9
ENST00000374574.2:c.118dup	ENSP00000363702.2:p.Tyr40LeufsTer9
ENST00000374580.8:c.118dup	ENSP00000363708.4:p.Tyr40LeufsTer9
ENST00000479069.1:n.25dup
NM_001204.6:c.118dup , LRG_712t1:c.118dup	NP_001195.2:p.Tyr40LeufsTer9
XM_011511687.1:c.118dup	XP_011509989.1:p.Tyr40LeufsTer9
XM_011511688.1:c.118dup	XP_011509990.1:p.Tyr40LeufsTer9
NM_001204.7:c.118dup MANE Select	NP_001195.2:p.Tyr40LeufsTer9