Canonical Allele Identifier: CA645293949
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425983
ClinVar RCV Id: RCV000488718
dbSNP Id: rs1085307382

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202556072_202556073insTG , CM000664.2:g.202556072_202556073insTG GRCh38
NC_000002.11:g.203420795_203420796insTG , CM000664.1:g.203420795_203420796insTG GRCh37
NC_000002.10:g.203129040_203129041insTG NCBI36
NG_009363.1:g.184746_184747insTG , LRG_712:g.184746_184747insTG

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.2407_2408insTG MANE Select ENSP00000363708.4:p.Thr803MetfsTer5
ENST00000638587.1:c.2338_2339insTG ENSP00000491062.1:n.2338_2339insTG
ENST00000374574.2:c.1586+3184_1586+3185insTG ENSP00000363702.2:n.1586+3184_1586+3185in...
ENST00000374580.8:c.2407_2408insTG ENSP00000363708.4:p.Thr803MetfsTer5
NM_001204.6:c.2407_2408insTG , LRG_712t1:c.2407_2408insTG NP_001195.2:p.Thr803MetfsTer5
XM_011511687.1:c.2407_2408insTG XP_011509989.1:p.Thr803MetfsTer5
XM_011511688.1:c.1586+3184_1586+3185insTG XP_011509990.1:n.1586+3184_1586+3185insTG...
NM_001204.7:c.2407_2408insTG MANE Select NP_001195.2:p.Thr803MetfsTer5