Canonical Allele Identifier: CA645293806
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425806
ClinVar RCV Id: RCV000488622
dbSNP Id: rs1085307245
MyVariant Identifiers: chr2:g.203379689_203379690del (hg19) chr2:g.202514966_202514967del (hg38)
PubMed: PMID:19223935 PMID:20002458 PMID:26387786
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202514966_202514967del , CM000664.2:g.202514966_202514967del GRCh38
NC_000002.11:g.203379689_203379690del , CM000664.1:g.203379689_203379690del GRCh37
NC_000002.10:g.203087934_203087935del NCBI36
NG_009363.1:g.143640_143641del , LRG_712:g.143640_143641del

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.608_609del MANE Select ENSP00000363708.4:p.Leu203GlnfsTer16
ENST00000638587.1:c.539_540del ENSP00000491062.1:p.Leu180GlnfsTer16
ENST00000374574.2:c.608_609del ENSP00000363702.2:p.Leu203GlnfsTer16
ENST00000374580.8:c.608_609del ENSP00000363708.4:p.Leu203GlnfsTer16
NM_001204.6:c.608_609del , LRG_712t1:c.608_609del NP_001195.2:p.Leu203GlnfsTer16
XM_011511687.1:c.608_609del XP_011509989.1:p.Leu203GlnfsTer16
XM_011511688.1:c.608_609del XP_011509990.1:p.Leu203GlnfsTer16
NM_001204.7:c.608_609del MANE Select NP_001195.2:p.Leu203GlnfsTer16
Search 100 bp 5'
Search 100 bp 3'