Canonical Allele Identifier: CA645294014
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425772
ClinVar RCV Id: RCV000488477
dbSNP Id: rs1085307220
MyVariant Identifiers: chr2:g.203332353_203332354del (hg19) chr2:g.202467630_202467631del (hg38)
PubMed: PMID:16429395 PMID:26387786
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202467630_202467631del , CM000664.2:g.202467630_202467631del GRCh38
NC_000002.11:g.203332353_203332354del , CM000664.1:g.203332353_203332354del GRCh37
NC_000002.10:g.203040598_203040599del NCBI36
NG_009363.1:g.96304_96305del , LRG_712:g.96304_96305del

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.359_360del MANE Select ENSP00000363708.4:p.Thr120ArgfsTer4
ENST00000638587.1:c.290_291del ENSP00000491062.1:p.Thr97ArgfsTer4
ENST00000374574.2:c.359_360del ENSP00000363702.2:p.Thr120ArgfsTer4
ENST00000374580.8:c.359_360del ENSP00000363708.4:p.Thr120ArgfsTer4
ENST00000479069.1:n.266_267del
NM_001204.6:c.359_360del , LRG_712t1:c.359_360del NP_001195.2:p.Thr120ArgfsTer4
XM_011511687.1:c.359_360del XP_011509989.1:p.Thr120ArgfsTer4
XM_011511688.1:c.359_360del XP_011509990.1:p.Thr120ArgfsTer4
NM_001204.7:c.359_360del MANE Select NP_001195.2:p.Thr120ArgfsTer4
Search 100 bp 5'
Search 100 bp 3'