Canonical Allele Identifier: CA645293961
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425998
ClinVar RCV Id: RCV000488789
dbSNP Id: rs1085307396
MyVariant Identifiers: chr2:g.203420997del (hg19) chr2:g.202556274del (hg38)
PubMed: PMID:19555857 PMID:26387786
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202556274del , CM000664.2:g.202556274del GRCh38
NC_000002.11:g.203420997del , CM000664.1:g.203420997del GRCh37
NC_000002.10:g.203129242del NCBI36
NG_009363.1:g.184948del , LRG_712:g.184948del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.2609del MANE Select ENSP00000363708.4:p.Leu870TyrfsTer2
ENST00000638587.1:c.2540del ENSP00000491062.1:n.2540del
ENST00000374574.2:c.1586+3386del ENSP00000363702.2:n.1586+3386del
ENST00000374580.8:c.2609del ENSP00000363708.4:p.Leu870TyrfsTer2
NM_001204.6:c.2609del , LRG_712t1:c.2609del NP_001195.2:p.Leu870TyrfsTer2
XM_011511687.1:c.2609del XP_011509989.1:p.Leu870TyrfsTer2
XM_011511688.1:c.1586+3386del XP_011509990.1:n.1586+3386del
NM_001204.7:c.2609del MANE Select NP_001195.2:p.Leu870TyrfsTer2
Search 100 bp 5'
Search 100 bp 3'