Canonical Allele Identifier: CA2586971102

Gene: BMPR2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202532687_202532700del , CM000664.2:g.202532687_202532700del	GRCh38
NC_000002.11:g.203397410_203397423del , CM000664.1:g.203397410_203397423del	GRCh37
NC_000002.10:g.203105655_203105668del	NCBI36
NG_009363.1:g.161361_161374del , LRG_712:g.161361_161374del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.1231_1244del MANE Select	ENSP00000363708.4:p.Leu411AspfsTer?
ENST00000638587.1:c.1162_1175del	ENSP00000491062.1:p.Leu388AspfsTer?
ENST00000374574.2:c.1231_1244del	ENSP00000363702.2:p.Leu411AspfsTer?
ENST00000374580.8:c.1231_1244del	ENSP00000363708.4:p.Leu411AspfsTer?
NM_001204.6:c.1231_1244del , LRG_712t1:c.1231_1244del	NP_001195.2:p.Leu411AspfsTer?
XM_011511687.1:c.1231_1244del	XP_011509989.1:p.Leu411AspfsTer?
XM_011511688.1:c.1231_1244del	XP_011509990.1:p.Leu411AspfsTer?
NM_001204.7:c.1231_1244del MANE Select	NP_001195.2:p.Leu411AspfsTer?