Canonical Allele Identifier: CA645293847
Gene: BMPR2 HGNC NCBI

Linked Data

dbSNP Id: rs1085307342
MyVariant Identifiers: chr2:g.203407133_203407134del (hg19) chr2:g.202542410_202542411del (hg38)
PubMed: PMID:15146475 PMID:15965979 PMID:26387786
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202542410_202542411del , CM000664.2:g.202542410_202542411del GRCh38
NC_000002.11:g.203407133_203407134del , CM000664.1:g.203407133_203407134del GRCh37
NC_000002.10:g.203115378_203115379del NCBI36
NG_009363.1:g.171084_171085del , LRG_712:g.171084_171085del

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.1376_1377del MANE Select ENSP00000363708.4:p.Arg459ThrfsTer11
ENST00000638587.1:c.1307_1308del ENSP00000491062.1:p.Arg436ThrfsTer11
ENST00000374574.2:c.1376_1377del ENSP00000363702.2:p.Arg459ThrfsTer11
ENST00000374580.8:c.1376_1377del ENSP00000363708.4:p.Arg459ThrfsTer11
NM_001204.6:c.1376_1377del , LRG_712t1:c.1376_1377del NP_001195.2:p.Arg459ThrfsTer11
XM_011511687.1:c.1376_1377del XP_011509989.1:p.Arg459ThrfsTer11
XM_011511688.1:c.1376_1377del XP_011509990.1:p.Arg459ThrfsTer11
NM_001204.7:c.1376_1377del MANE Select NP_001195.2:p.Arg459ThrfsTer11
Search 100 bp 5'
Search 100 bp 3'