Canonical Allele Identifier: CA915941494
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 812795
ClinVar RCV Id: RCV001003648
dbSNP Id: rs1574462520
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202464825_202464826insT , CM000664.2:g.202464825_202464826insT GRCh38
NC_000002.11:g.203329548_203329549insT , CM000664.1:g.203329548_203329549insT GRCh37
NC_000002.10:g.203037793_203037794insT NCBI36
NG_009363.1:g.93499_93500insT , LRG_712:g.93499_93500insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.93_94insT MANE Select ENSP00000363708.4:p.Arg32SerfsTer6
ENST00000638587.1:c.18_19insT ENSP00000491062.1:p.Arg7SerfsTer6
ENST00000374574.2:c.93_94insT ENSP00000363702.2:p.Arg32SerfsTer6
ENST00000374580.8:c.93_94insT ENSP00000363708.4:p.Arg32SerfsTer6
ENST00000479069.1:n.1-1_1insT
NM_001204.6:c.93_94insT , LRG_712t1:c.93_94insT NP_001195.2:p.Arg32SerfsTer6
XM_011511687.1:c.93_94insT XP_011509989.1:p.Arg32SerfsTer6
XM_011511688.1:c.93_94insT XP_011509990.1:p.Arg32SerfsTer6
NM_001204.7:c.93_94insT MANE Select NP_001195.2:p.Arg32SerfsTer6
Search 100 bp 5'
Search 100 bp 3'