Canonical Allele Identifier: CA2580065453
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1706628
ClinVar RCV Id: RCV002285237 RCV003597424
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202532625del , CM000664.2:g.202532625del GRCh38
NC_000002.11:g.203397348del , CM000664.1:g.203397348del GRCh37
NC_000002.10:g.203105593del NCBI36
NG_009363.1:g.161299del , LRG_712:g.161299del

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.1169del MANE Select ENSP00000363708.4:p.Gly390GlufsTer3
ENST00000638587.1:c.1100del ENSP00000491062.1:p.Gly367GlufsTer3
ENST00000374574.2:c.1169del ENSP00000363702.2:p.Gly390GlufsTer3
ENST00000374580.8:c.1169del ENSP00000363708.4:p.Gly390GlufsTer3
NM_001204.6:c.1169del , LRG_712t1:c.1169del NP_001195.2:p.Gly390GlufsTer3
XM_011511687.1:c.1169del XP_011509989.1:p.Gly390GlufsTer3
XM_011511688.1:c.1169del XP_011509990.1:p.Gly390GlufsTer3
NM_001204.7:c.1169del MANE Select NP_001195.2:p.Gly390GlufsTer3
Search 100 bp 5'
Search 100 bp 3'