Canonical Allele Identifier: CA645293951

Gene: BMPR2

Linked Data

• ClinVar Variation Id: 425986
• ClinVar RCV Id: RCV000488686
• dbSNP Id: rs1085307385
• MyVariant Identifiers: chr2:g.203420830_203420831del (hg19) ; chr2:g.202556107_202556108del (hg38)
• PubMed: PMID:19555857 ; PMID:26387786

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202556107_202556108del , CM000664.2:g.202556107_202556108del	GRCh38
NC_000002.11:g.203420830_203420831del , CM000664.1:g.203420830_203420831del	GRCh37
NC_000002.10:g.203129075_203129076del	NCBI36
NG_009363.1:g.184781_184782del , LRG_712:g.184781_184782del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.2442_2443del MANE Select	ENSP00000363708.4:p.His814GlnfsTer3
ENST00000638587.1:c.2373_2374del	ENSP00000491062.1:n.2373_2374del
ENST00000374574.2:c.1586+3219_1586+3220del	ENSP00000363702.2:n.1586+3219_1586+3220del
ENST00000374580.8:c.2442_2443del	ENSP00000363708.4:p.His814GlnfsTer3
NM_001204.6:c.2442_2443del , LRG_712t1:c.2442_2443del	NP_001195.2:p.His814GlnfsTer3
XM_011511687.1:c.2442_2443del	XP_011509989.1:p.His814GlnfsTer3
XM_011511688.1:c.1586+3219_1586+3220del	XP_011509990.1:n.1586+3219_1586+3220del
NM_001204.7:c.2442_2443del MANE Select	NP_001195.2:p.His814GlnfsTer3