Canonical Allele Identifier: CA2499215574
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1256042
ClinVar RCV Id: RCV001663386
dbSNP Id: rs2106008473
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202520195_202520197dup , CM000664.2:g.202520195_202520197dup GRCh38
NC_000002.11:g.203384918_203384920dup , CM000664.1:g.203384918_203384920dup GRCh37
NC_000002.10:g.203093163_203093165dup NCBI36
NG_009363.1:g.148869_148871dup , LRG_712:g.148869_148871dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.961_963dup MANE Select ENSP00000363708.4:p.Arg321_Gly322insArg
ENST00000638587.1:c.892_894dup ENSP00000491062.1:p.Arg298_Gly299insArg
ENST00000374574.2:c.961_963dup ENSP00000363702.2:p.Arg321_Gly322insArg
ENST00000374580.8:c.961_963dup ENSP00000363708.4:p.Arg321_Gly322insArg
NM_001204.6:c.961_963dup , LRG_712t1:c.961_963dup NP_001195.2:p.Arg321_Gly322insArg
XM_011511687.1:c.961_963dup XP_011509989.1:p.Arg321_Gly322insArg
XM_011511688.1:c.961_963dup XP_011509990.1:p.Arg321_Gly322insArg
NM_001204.7:c.961_963dup MANE Select NP_001195.2:p.Arg321_Gly322insArg
Search 100 bp 5'
Search 100 bp 3'