Canonical Allele Identifier: CA915941651
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 812829
ClinVar RCV Id: RCV001003716
dbSNP Id: rs1574494655
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202532711_202532713dup , CM000664.2:g.202532711_202532713dup GRCh38
NC_000002.11:g.203397434_203397436dup , CM000664.1:g.203397434_203397436dup GRCh37
NC_000002.10:g.203105679_203105681dup NCBI36
NG_009363.1:g.161385_161387dup , LRG_712:g.161385_161387dup

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.1255_1257dup MANE Select ENSP00000363708.4:p.Arg419_Cys420insArg
ENST00000638587.1:c.1186_1188dup ENSP00000491062.1:p.Arg396_Cys397insArg
ENST00000374574.2:c.1255_1257dup ENSP00000363702.2:p.Arg419_Cys420insArg
ENST00000374580.8:c.1255_1257dup ENSP00000363708.4:p.Arg419_Cys420insArg
NM_001204.6:c.1255_1257dup , LRG_712t1:c.1255_1257dup NP_001195.2:p.Arg419_Cys420insArg
XM_011511687.1:c.1255_1257dup XP_011509989.1:p.Arg419_Cys420insArg
XM_011511688.1:c.1255_1257dup XP_011509990.1:p.Arg419_Cys420insArg
NM_001204.7:c.1255_1257dup MANE Select NP_001195.2:p.Arg419_Cys420insArg
Search 100 bp 5'
Search 100 bp 3'