Canonical Allele Identifier: CA645293827
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425904
ClinVar RCV Id: RCV000488812
dbSNP Id: rs1085307322
MyVariant Identifiers: chr2:g.203397429_203397432del (hg19) chr2:g.202532706_202532709del (hg38)
PubMed: PMID:16429395 PMID:19555857 PMID:26387786
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202532706_202532709del , CM000664.2:g.202532706_202532709del GRCh38
NC_000002.11:g.203397429_203397432del , CM000664.1:g.203397429_203397432del GRCh37
NC_000002.10:g.203105674_203105677del NCBI36
NG_009363.1:g.161380_161383del , LRG_712:g.161380_161383del

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.1250_1253del MANE Select ENSP00000363708.4:p.Phe417Ter
ENST00000638587.1:c.1181_1184del ENSP00000491062.1:p.Phe394Ter
ENST00000374574.2:c.1250_1253del ENSP00000363702.2:p.Phe417Ter
ENST00000374580.8:c.1250_1253del ENSP00000363708.4:p.Phe417Ter
NM_001204.6:c.1250_1253del , LRG_712t1:c.1250_1253del NP_001195.2:p.Phe417Ter
XM_011511687.1:c.1250_1253del XP_011509989.1:p.Phe417Ter
XM_011511688.1:c.1250_1253del XP_011509990.1:p.Phe417Ter
NM_001204.7:c.1250_1253del MANE Select NP_001195.2:p.Phe417Ter
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