Canonical Allele Identifier: CA645293946
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425981
ClinVar RCV Id: RCV000488806
dbSNP Id: rs1085307380
MyVariant Identifiers: chr2:g.203420696del (hg19) chr2:g.202555973del (hg38)
PubMed: PMID:18503968 PMID:21801371 PMID:26387786
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202555973del , CM000664.2:g.202555973del GRCh38
NC_000002.11:g.203420696del , CM000664.1:g.203420696del GRCh37
NC_000002.10:g.203128941del NCBI36
NG_009363.1:g.184647del , LRG_712:g.184647del

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.2308del MANE Select ENSP00000363708.4:p.Arg770GlyfsTer2
ENST00000638587.1:c.2239del ENSP00000491062.1:n.2239del
ENST00000374574.2:c.1586+3085del ENSP00000363702.2:n.1586+3085del
ENST00000374580.8:c.2308del ENSP00000363708.4:p.Arg770GlyfsTer2
NM_001204.6:c.2308del , LRG_712t1:c.2308del NP_001195.2:p.Arg770GlyfsTer2
XM_011511687.1:c.2308del XP_011509989.1:p.Arg770GlyfsTer2
XM_011511688.1:c.1586+3085del XP_011509990.1:n.1586+3085del
NM_001204.7:c.2308del MANE Select NP_001195.2:p.Arg770GlyfsTer2
Search 100 bp 5'
Search 100 bp 3'