Canonical Allele Identifier: CA645293984
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425847
dbSNP Id: rs1085307276

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202520195del , CM000664.2:g.202520195del GRCh38
NC_000002.11:g.203384918del , CM000664.1:g.203384918del GRCh37
NC_000002.10:g.203093163del NCBI36
NG_009363.1:g.148869del , LRG_712:g.148869del

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.961del MANE Select ENSP00000363708.4:p.Arg321GlufsTer14
ENST00000638587.1:c.892del ENSP00000491062.1:p.Arg298GlufsTer14
ENST00000374574.2:c.961del ENSP00000363702.2:p.Arg321GlufsTer14
ENST00000374580.8:c.961del ENSP00000363708.4:p.Arg321GlufsTer14
NM_001204.6:c.961del , LRG_712t1:c.961del NP_001195.2:p.Arg321GlufsTer14
XM_011511687.1:c.961del XP_011509989.1:p.Arg321GlufsTer14
XM_011511688.1:c.961del XP_011509990.1:p.Arg321GlufsTer14
NM_001204.7:c.961del MANE Select NP_001195.2:p.Arg321GlufsTer14