Canonical Allele Identifier: CA915941654
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 812831
ClinVar RCV Id: RCV001003718
dbSNP Id: rs1574500018
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202542389_202542390dup , CM000664.2:g.202542389_202542390dup GRCh38
NC_000002.11:g.203407112_203407113dup , CM000664.1:g.203407112_203407113dup GRCh37
NC_000002.10:g.203115357_203115358dup NCBI36
NG_009363.1:g.171063_171064dup , LRG_712:g.171063_171064dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.1355_1356dup MANE Select ENSP00000363708.4:p.Val453SerfsTer22
ENST00000638587.1:c.1286_1287dup ENSP00000491062.1:p.Val430SerfsTer22
ENST00000374574.2:c.1355_1356dup ENSP00000363702.2:p.Val453SerfsTer22
ENST00000374580.8:c.1355_1356dup ENSP00000363708.4:p.Val453SerfsTer22
NM_001204.6:c.1355_1356dup , LRG_712t1:c.1355_1356dup NP_001195.2:p.Val453SerfsTer22
XM_011511687.1:c.1355_1356dup XP_011509989.1:p.Val453SerfsTer22
XM_011511688.1:c.1355_1356dup XP_011509990.1:p.Val453SerfsTer22
NM_001204.7:c.1355_1356dup MANE Select NP_001195.2:p.Val453SerfsTer22
Search 100 bp 5'
Search 100 bp 3'