Canonical Allele Identifier: CA915941647
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 812818
ClinVar RCV Id: RCV001003692
dbSNP Id: rs1574488484
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202519023dup , CM000664.2:g.202519023dup GRCh38
NC_000002.11:g.203383746dup , CM000664.1:g.203383746dup GRCh37
NC_000002.10:g.203091991dup NCBI36
NG_009363.1:g.147697dup , LRG_712:g.147697dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.823dup MANE Select ENSP00000363708.4:p.Tyr275LeufsTer23
ENST00000638587.1:c.754dup ENSP00000491062.1:p.Tyr252LeufsTer23
ENST00000374574.2:c.823dup ENSP00000363702.2:p.Tyr275LeufsTer23
ENST00000374580.8:c.823dup ENSP00000363708.4:p.Tyr275LeufsTer23
NM_001204.6:c.823dup , LRG_712t1:c.823dup NP_001195.2:p.Tyr275LeufsTer23
XM_011511687.1:c.823dup XP_011509989.1:p.Tyr275LeufsTer23
XM_011511688.1:c.823dup XP_011509990.1:p.Tyr275LeufsTer23
NM_001204.7:c.823dup MANE Select NP_001195.2:p.Tyr275LeufsTer23
Search 100 bp 5'
Search 100 bp 3'