Canonical Allele Identifier: CA645293800
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425792
ClinVar RCV Id: RCV000488521 RCV001003674
dbSNP Id: rs1085307234
MyVariant Identifiers: chr2:g.203378472dup (hg19) chr2:g.202513749dup (hg38)
PubMed: PMID:20534176 PMID:26387786
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202513749dup , CM000664.2:g.202513749dup GRCh38
NC_000002.11:g.203378472dup , CM000664.1:g.203378472dup GRCh37
NC_000002.10:g.203086717dup NCBI36
NG_009363.1:g.142423dup , LRG_712:g.142423dup

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.449dup MANE Select ENSP00000363708.4:p.Ile151AsnfsTer30
ENST00000638587.1:c.380dup ENSP00000491062.1:p.Ile128AsnfsTer30
ENST00000374574.2:c.449dup ENSP00000363702.2:p.Ile151AsnfsTer30
ENST00000374580.8:c.449dup ENSP00000363708.4:p.Ile151AsnfsTer30
NM_001204.6:c.449dup , LRG_712t1:c.449dup NP_001195.2:p.Ile151AsnfsTer30
XM_011511687.1:c.449dup XP_011509989.1:p.Ile151AsnfsTer30
XM_011511688.1:c.449dup XP_011509990.1:p.Ile151AsnfsTer30
NM_001204.7:c.449dup MANE Select NP_001195.2:p.Ile151AsnfsTer30
Search 100 bp 5'
Search 100 bp 3'