Canonical Allele Identifier: CA645293982
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425951
ClinVar RCV Id: RCV000488768
dbSNP Id: rs1085307359

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202552779dup , CM000664.2:g.202552779dup GRCh38
NC_000002.11:g.203417502dup , CM000664.1:g.203417502dup GRCh37
NC_000002.10:g.203125747dup NCBI36
NG_009363.1:g.181453dup , LRG_712:g.181453dup

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.1477dup MANE Select ENSP00000363708.4:p.Thr493AsnfsTer6
ENST00000638587.1:c.1408dup ENSP00000491062.1:p.Thr470AsnfsTer6
ENST00000374574.2:c.1477dup ENSP00000363702.2:p.Thr493AsnfsTer6
ENST00000374580.8:c.1477dup ENSP00000363708.4:p.Thr493AsnfsTer6
NM_001204.6:c.1477dup , LRG_712t1:c.1477dup NP_001195.2:p.Thr493AsnfsTer6
XM_011511687.1:c.1477dup XP_011509989.1:p.Thr493AsnfsTer6
XM_011511688.1:c.1477dup XP_011509990.1:p.Thr493AsnfsTer6
NM_001204.7:c.1477dup MANE Select NP_001195.2:p.Thr493AsnfsTer6