Canonical Allele Identifier: CA645293950
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425985
ClinVar RCV Id: RCV000488609
dbSNP Id: rs1085307384
MyVariant Identifiers: chr2:g.203420801dup (hg19) chr2:g.202556078dup (hg38)
PubMed: PMID:25429696 PMID:26387786
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202556078dup , CM000664.2:g.202556078dup GRCh38
NC_000002.11:g.203420801dup , CM000664.1:g.203420801dup GRCh37
NC_000002.10:g.203129046dup NCBI36
NG_009363.1:g.184752dup , LRG_712:g.184752dup

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.2413dup MANE Select ENSP00000363708.4:p.Thr805AsnfsTer8
ENST00000638587.1:c.2344dup ENSP00000491062.1:n.2344dup
ENST00000374574.2:c.1586+3190dup ENSP00000363702.2:n.1586+3190dup
ENST00000374580.8:c.2413dup ENSP00000363708.4:p.Thr805AsnfsTer8
NM_001204.6:c.2413dup , LRG_712t1:c.2413dup NP_001195.2:p.Thr805AsnfsTer8
XM_011511687.1:c.2413dup XP_011509989.1:p.Thr805AsnfsTer8
XM_011511688.1:c.1586+3190dup XP_011509990.1:n.1586+3190dup
NM_001204.7:c.2413dup MANE Select NP_001195.2:p.Thr805AsnfsTer8
Search 100 bp 5'
Search 100 bp 3'