Canonical Allele Identifier: CA645293826
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425901
ClinVar RCV Id: RCV000488787
dbSNP Id: rs1085307319

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202532702_202532703insG , CM000664.2:g.202532702_202532703insG GRCh38
NC_000002.11:g.203397425_203397426insG , CM000664.1:g.203397425_203397426insG GRCh37
NC_000002.10:g.203105670_203105671insG NCBI36
NG_009363.1:g.161376_161377insG , LRG_712:g.161376_161377insG

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.1246_1247insG MANE Select ENSP00000363708.4:p.Ile416SerfsTer?
ENST00000638587.1:c.1177_1178insG ENSP00000491062.1:p.Ile393SerfsTer?
ENST00000374574.2:c.1246_1247insG ENSP00000363702.2:p.Ile416SerfsTer?
ENST00000374580.8:c.1246_1247insG ENSP00000363708.4:p.Ile416SerfsTer?
NM_001204.6:c.1246_1247insG , LRG_712t1:c.1246_1247insG NP_001195.2:p.Ile416SerfsTer?
XM_011511687.1:c.1246_1247insG XP_011509989.1:p.Ile416SerfsTer?
XM_011511688.1:c.1246_1247insG XP_011509990.1:p.Ile416SerfsTer?
NM_001204.7:c.1246_1247insG MANE Select NP_001195.2:p.Ile416SerfsTer?