Canonical Allele Identifier: CA645293820
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425828
ClinVar RCV Id: RCV000488634
dbSNP Id: rs1085307263
MyVariant Identifiers: chr2:g.203383727del (hg19) chr2:g.202519004del (hg38)
PubMed: PMID:16728714 PMID:26387786
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202519004del , CM000664.2:g.202519004del GRCh38
NC_000002.11:g.203383727del , CM000664.1:g.203383727del GRCh37
NC_000002.10:g.203091972del NCBI36
NG_009363.1:g.147678del , LRG_712:g.147678del

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.804del MANE Select ENSP00000363708.4:p.Ala269GlnfsTer10
ENST00000638587.1:c.735del ENSP00000491062.1:p.Ala246GlnfsTer10
ENST00000374574.2:c.804del ENSP00000363702.2:p.Ala269GlnfsTer10
ENST00000374580.8:c.804del ENSP00000363708.4:p.Ala269GlnfsTer10
NM_001204.6:c.804del , LRG_712t1:c.804del NP_001195.2:p.Ala269GlnfsTer10
XM_011511687.1:c.804del XP_011509989.1:p.Ala269GlnfsTer10
XM_011511688.1:c.804del XP_011509990.1:p.Ala269GlnfsTer10
NM_001204.7:c.804del MANE Select NP_001195.2:p.Ala269GlnfsTer10
Search 100 bp 5'
Search 100 bp 3'