Canonical Allele Identifier: CA658761121

Gene: BMPR2

Linked Data

• PubMed: PMID:16429395

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202532701dup , CM000664.2:g.202532701dup	GRCh38
NC_000002.11:g.203397424dup , CM000664.1:g.203397424dup	GRCh37
NC_000002.10:g.203105669dup	NCBI36
NG_009363.1:g.161375dup , LRG_712:g.161375dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.1245dup MANE Select	ENSP00000363708.4:p.Ile416AspfsTer?
ENST00000638587.1:c.1176dup	ENSP00000491062.1:p.Ile393AspfsTer?
ENST00000374574.2:c.1245dup	ENSP00000363702.2:p.Ile416AspfsTer?
ENST00000374580.8:c.1245dup	ENSP00000363708.4:p.Ile416AspfsTer?
NM_001204.6:c.1245dup , LRG_712t1:c.1245dup	NP_001195.2:p.Ile416AspfsTer?
XM_011511687.1:c.1245dup	XP_011509989.1:p.Ile416AspfsTer?
XM_011511688.1:c.1245dup	XP_011509990.1:p.Ile416AspfsTer?
NM_001204.7:c.1245dup MANE Select	NP_001195.2:p.Ile416AspfsTer?