Canonical Allele Identifier: CA645293798
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425790
ClinVar RCV Id: RCV000488487
dbSNP Id: rs1085307232

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202513720_202513721insG , CM000664.2:g.202513720_202513721insG GRCh38
NC_000002.11:g.203378443_203378444insG , CM000664.1:g.203378443_203378444insG GRCh37
NC_000002.10:g.203086688_203086689insG NCBI36
NG_009363.1:g.142394_142395insG , LRG_712:g.142394_142395insG

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.420_421insG MANE Select ENSP00000363708.4:p.Pro141AlafsTer6
ENST00000638587.1:c.351_352insG ENSP00000491062.1:p.Pro118AlafsTer6
ENST00000374574.2:c.420_421insG ENSP00000363702.2:p.Pro141AlafsTer6
ENST00000374580.8:c.420_421insG ENSP00000363708.4:p.Pro141AlafsTer6
NM_001204.6:c.420_421insG , LRG_712t1:c.420_421insG NP_001195.2:p.Pro141AlafsTer6
XM_011511687.1:c.420_421insG XP_011509989.1:p.Pro141AlafsTer6
XM_011511688.1:c.420_421insG XP_011509990.1:p.Pro141AlafsTer6
NM_001204.7:c.420_421insG MANE Select NP_001195.2:p.Pro141AlafsTer6