Canonical Allele Identifier: CA645293831
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425909
ClinVar RCV Id: RCV000488711
dbSNP Id: rs1085307327
PubMed: PMID:19555857 PMID:26387786
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202532727_202532732delinsCGGAGA , CM000664.2:g.202532727_202532732delinsCGGAGA GRCh38
NC_000002.11:g.203397450_203397455delinsCGGAGA , CM000664.1:g.203397450_203397455delinsCGGAGA GRCh37
NC_000002.10:g.203105695_203105700delinsCGGAGA NCBI36
NG_009363.1:g.161401_161406delinsCGGAGA , LRG_712:g.161401_161406delinsCGGAGA

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.1271_1276delinsCGGAGA MANE Select ENSP00000363708.4:p.Phe424_Gly426delinsSe...
ENST00000638587.1:c.1202_1207delinsCGGAGA ENSP00000491062.1:p.Phe401_Gly403delinsSe...
ENST00000374574.2:c.1271_1276delinsCGGAGA ENSP00000363702.2:p.Phe424_Gly426delinsSe...
ENST00000374580.8:c.1271_1276delinsCGGAGA ENSP00000363708.4:p.Phe424_Gly426delinsSe...
NM_001204.6:c.1271_1276delinsCGGAGA , LRG_712t1:c.1271_1276delinsCGGAGA NP_001195.2:p.Phe424_Gly426delinsSerGluAr...
XM_011511687.1:c.1271_1276delinsCGGAGA XP_011509989.1:p.Phe424_Gly426delinsSerGl...
XM_011511688.1:c.1271_1276delinsCGGAGA XP_011509990.1:p.Phe424_Gly426delinsSerGl...
NM_001204.7:c.1271_1276delinsCGGAGA MANE Select NP_001195.2:p.Phe424_Gly426delinsSerGluAr...
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