Canonical Allele Identifier: CA645293814
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425821
ClinVar RCV Id: RCV000488757
dbSNP Id: rs1085307256
MyVariant Identifiers: chr2:g.203383705_203383706del (hg19) chr2:g.202518982_202518983del (hg38)
PubMed: PMID:20534176 PMID:26387786
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202518982_202518983del , CM000664.2:g.202518982_202518983del GRCh38
NC_000002.11:g.203383705_203383706del , CM000664.1:g.203383705_203383706del GRCh37
NC_000002.10:g.203091950_203091951del NCBI36
NG_009363.1:g.147656_147657del , LRG_712:g.147656_147657del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.782_783del MANE Select ENSP00000363708.4:p.Ile261SerfsTer4
ENST00000638587.1:c.713_714del ENSP00000491062.1:p.Ile238SerfsTer4
ENST00000374574.2:c.782_783del ENSP00000363702.2:p.Ile261SerfsTer4
ENST00000374580.8:c.782_783del ENSP00000363708.4:p.Ile261SerfsTer4
NM_001204.6:c.782_783del , LRG_712t1:c.782_783del NP_001195.2:p.Ile261SerfsTer4
XM_011511687.1:c.782_783del XP_011509989.1:p.Ile261SerfsTer4
XM_011511688.1:c.782_783del XP_011509990.1:p.Ile261SerfsTer4
NM_001204.7:c.782_783del MANE Select NP_001195.2:p.Ile261SerfsTer4
Search 100 bp 5'
Search 100 bp 3'