Canonical Allele Identifier: CA430854217
Gene: BMPR2 HGNC NCBI

Linked Data

COSMIC: COSM1404593
MyVariant Identifiers: chr2:g.203407080del (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202542359del , CM000664.2:g.202542359del GRCh38
NC_000002.11:g.203407082del , CM000664.1:g.203407082del GRCh37
NC_000002.10:g.203115327del NCBI36
NG_009363.1:g.171033del , LRG_712:g.171033del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.1325del MANE Select ENSP00000363708.4:p.Asn442ThrfsTer?
ENST00000638587.1:c.1256del ENSP00000491062.1:p.Asn419ThrfsTer?
ENST00000374574.2:c.1325del ENSP00000363702.2:p.Asn442ThrfsTer?
ENST00000374580.8:c.1325del ENSP00000363708.4:p.Asn442ThrfsTer?
NM_001204.6:c.1325del , LRG_712t1:c.1325del NP_001195.2:p.Asn442ThrfsTer?
XM_011511687.1:c.1325del XP_011509989.1:p.Asn442ThrfsTer?
XM_011511688.1:c.1325del XP_011509990.1:p.Asn442ThrfsTer?
NM_001204.7:c.1325del MANE Select NP_001195.2:p.Asn442ThrfsTer?
Search 100 bp 5'
Search 100 bp 3'