Canonical Allele Identifier: CA2753907238

Gene: BMPR2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202555416_202555469del , CM000664.2:g.202555416_202555469del	GRCh38
NC_000002.11:g.203420139_203420192del , CM000664.1:g.203420139_203420192del	GRCh37
NC_000002.10:g.203128384_203128437del	NCBI36
NG_009363.1:g.184090_184143del , LRG_712:g.184090_184143del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.1751_1804del MANE Select	ENSP00000363708.4:p.Arg584_Glu602delinsGln
ENST00000638587.1:c.1682_1735del	ENSP00000491062.1:n.1682_1735del
ENST00000374574.2:c.1586+2528_1586+2581del	ENSP00000363702.2:n.1586+2528_1586+2581del
ENST00000374580.8:c.1751_1804del	ENSP00000363708.4:p.Arg584_Glu602delinsGln
NM_001204.6:c.1751_1804del , LRG_712t1:c.1751_1804del	NP_001195.2:p.Arg584_Glu602delinsGln
XM_011511687.1:c.1751_1804del	XP_011509989.1:p.Arg584_Glu602delinsGln
XM_011511688.1:c.1586+2528_1586+2581del	XP_011509990.1:n.1586+2528_1586+2581del
NM_001204.7:c.1751_1804del MANE Select	NP_001195.2:p.Arg584_Glu602delinsGln