Canonical Allele Identifier: CA645532630
Gene: BMPR2 HGNC NCBI

Linked Data

COSMIC: COSM2908005
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202518998_202518999del , CM000664.2:g.202518998_202518999del GRCh38
NC_000002.11:g.203383721_203383722del , CM000664.1:g.203383721_203383722del GRCh37
NC_000002.10:g.203091966_203091967del NCBI36
NG_009363.1:g.147672_147673del , LRG_712:g.147672_147673del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.798_799del MANE Select ENSP00000363708.4:p.Arg266SerfsTer?
ENST00000638587.1:c.729_730del ENSP00000491062.1:p.Arg243SerfsTer?
ENST00000374574.2:c.798_799del ENSP00000363702.2:p.Arg266SerfsTer?
ENST00000374580.8:c.798_799del ENSP00000363708.4:p.Arg266SerfsTer?
NM_001204.6:c.798_799del , LRG_712t1:c.798_799del NP_001195.2:p.Arg266SerfsTer?
XM_011511687.1:c.798_799del XP_011509989.1:p.Arg266SerfsTer?
XM_011511688.1:c.798_799del XP_011509990.1:p.Arg266SerfsTer?
NM_001204.7:c.798_799del MANE Select NP_001195.2:p.Arg266SerfsTer?
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