Canonical Allele Identifier: CA645293809
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425812
ClinVar RCV Id: RCV000488685
dbSNP Id: rs1085307249
PubMed: PMID:16429395 PMID:26387786
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202518864_202518865delinsAAGG , CM000664.2:g.202518864_202518865delinsAAGG GRCh38
NC_000002.11:g.203383587_203383588delinsAAGG , CM000664.1:g.203383587_203383588delinsAAGG GRCh37
NC_000002.10:g.203091832_203091833delinsAAGG NCBI36
NG_009363.1:g.147538_147539delinsAAGG , LRG_712:g.147538_147539delinsAAGG

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.664_665delinsAAGG MANE Select ENSP00000363708.4:p.Leu222LysfsTer9
ENST00000638587.1:c.595_596delinsAAGG ENSP00000491062.1:p.Leu199LysfsTer9
ENST00000374574.2:c.664_665delinsAAGG ENSP00000363702.2:p.Leu222LysfsTer9
ENST00000374580.8:c.664_665delinsAAGG ENSP00000363708.4:p.Leu222LysfsTer9
NM_001204.6:c.664_665delinsAAGG , LRG_712t1:c.664_665delinsAAGG NP_001195.2:p.Leu222LysfsTer9
XM_011511687.1:c.664_665delinsAAGG XP_011509989.1:p.Leu222LysfsTer9
XM_011511688.1:c.664_665delinsAAGG XP_011509990.1:p.Leu222LysfsTer9
NM_001204.7:c.664_665delinsAAGG MANE Select NP_001195.2:p.Leu222LysfsTer9
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