Canonical Allele Identifier: CA645293993

Gene: BMPR2

Linked Data

• ClinVar Variation Id: 425713
• ClinVar RCV Id: RCV000488633
• dbSNP Id: rs1553503200
• MyVariant Identifiers: chr2:g.203329641_203329642insTACC (hg19) ; chr2:g.202464918_202464919insTACC (hg38)
• PubMed: PMID:19555857 ; PMID:26387786

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202464918_202464919insTACC , CM000664.2:g.202464918_202464919insTACC	GRCh38
NC_000002.11:g.203329641_203329642insTACC , CM000664.1:g.203329641_203329642insTACC	GRCh37
NC_000002.10:g.203037886_203037887insTACC	NCBI36
NG_009363.1:g.93592_93593insTACC , LRG_712:g.93592_93593insTACC

Transcript Alleles

HGVS	Amino-acid change
ENST00000374580.10:c.186_187insTACC MANE Select	ENSP00000363708.4:p.Gly63TyrfsTer3
ENST00000638587.1:c.111_112insTACC	ENSP00000491062.1:p.Gly38TyrfsTer3
ENST00000374574.2:c.186_187insTACC	ENSP00000363702.2:p.Gly63TyrfsTer3
ENST00000374580.8:c.186_187insTACC	ENSP00000363708.4:p.Gly63TyrfsTer3
ENST00000479069.1:n.93_94insTACC
NM_001204.6:c.186_187insTACC , LRG_712t1:c.186_187insTACC	NP_001195.2:p.Gly63TyrfsTer3
XM_011511687.1:c.186_187insTACC	XP_011509989.1:p.Gly63TyrfsTer3
XM_011511688.1:c.186_187insTACC	XP_011509990.1:p.Gly63TyrfsTer3
NM_001204.7:c.186_187insTACC MANE Select	NP_001195.2:p.Gly63TyrfsTer3