Canonical Allele Identifier: CA645293821
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425879
ClinVar RCV Id: RCV000488501
dbSNP Id: rs1085307302

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202532584_202532585dup , CM000664.2:g.202532584_202532585dup GRCh38
NC_000002.11:g.203397307_203397308dup , CM000664.1:g.203397307_203397308dup GRCh37
NC_000002.10:g.203105552_203105553dup NCBI36
NG_009363.1:g.161258_161259dup , LRG_712:g.161258_161259dup

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.1129-1_1129dup
ENST00000638587.1:c.1060-1_1060dup
ENST00000374574.2:c.1129-1_1129dup
ENST00000374580.8:c.1129-1_1129dup
NM_001204.6:c.1129-1_1129dup , LRG_712t1:c.1129-1_1129dup
XM_011511687.1:c.1129-1_1129dup
XM_011511688.1:c.1129-1_1129dup
NM_001204.7:c.1129-1_1129dup