Canonical Allele Identifier: CA2586971009

Gene: BMPR2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202552750_202552751del , CM000664.2:g.202552750_202552751del	GRCh38
NC_000002.11:g.203417473_203417474del , CM000664.1:g.203417473_203417474del	GRCh37
NC_000002.10:g.203125718_203125719del	NCBI36
NG_009363.1:g.181424_181425del , LRG_712:g.181424_181425del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.1448_1449del MANE Select	ENSP00000363708.4:p.Cys483LeufsTer15
ENST00000638587.1:c.1379_1380del	ENSP00000491062.1:p.Cys460LeufsTer15
ENST00000374574.2:c.1448_1449del	ENSP00000363702.2:p.Cys483LeufsTer15
ENST00000374580.8:c.1448_1449del	ENSP00000363708.4:p.Cys483LeufsTer15
NM_001204.6:c.1448_1449del , LRG_712t1:c.1448_1449del	NP_001195.2:p.Cys483LeufsTer15
XM_011511687.1:c.1448_1449del	XP_011509989.1:p.Cys483LeufsTer15
XM_011511688.1:c.1448_1449del	XP_011509990.1:p.Cys483LeufsTer15
NM_001204.7:c.1448_1449del MANE Select	NP_001195.2:p.Cys483LeufsTer15