Canonical Allele Identifier: CA645293954
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425990
ClinVar RCV Id: RCV000488466
dbSNP Id: rs1085307389
MyVariant Identifiers: chr2:g.203420891_203420894del (hg19) chr2:g.202556168_202556171del (hg38)
PubMed: PMID:21737554 PMID:23675998 PMID:26387786
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202556168_202556171del , CM000664.2:g.202556168_202556171del GRCh38
NC_000002.11:g.203420891_203420894del , CM000664.1:g.203420891_203420894del GRCh37
NC_000002.10:g.203129136_203129139del NCBI36
NG_009363.1:g.184842_184845del , LRG_712:g.184842_184845del

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.2503_2506del MANE Select ENSP00000363708.4:p.Thr835ProfsTer3
ENST00000638587.1:c.2434_2437del ENSP00000491062.1:n.2434_2437del
ENST00000374574.2:c.1586+3280_1586+3283del ENSP00000363702.2:n.1586+3280_1586+3283de...
ENST00000374580.8:c.2503_2506del ENSP00000363708.4:p.Thr835ProfsTer3
NM_001204.6:c.2503_2506del , LRG_712t1:c.2503_2506del NP_001195.2:p.Thr835ProfsTer3
XM_011511687.1:c.2503_2506del XP_011509989.1:p.Thr835ProfsTer3
XM_011511688.1:c.1586+3280_1586+3283del XP_011509990.1:n.1586+3280_1586+3283del
NM_001204.7:c.2503_2506del MANE Select NP_001195.2:p.Thr835ProfsTer3
Search 100 bp 5'
Search 100 bp 3'