Canonical Allele Identifier: CA658822347
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 548926
ClinVar RCV Id: RCV000664167

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202532727_202542311delinsAGA , CM000664.2:g.202532727_202542311delinsAGA GRCh38
NC_000002.11:g.203397450_203407034delinsAGA , CM000664.1:g.203397450_203407034delinsAGA GRCh37
NC_000002.10:g.203105695_203115279delinsAGA NCBI36
NG_009363.1:g.161401_170985delinsAGA , LRG_712:g.161401_170985delinsAGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.1271_1277delinsAGA
ENST00000638587.1:c.1202_1208delinsAGA
ENST00000374574.2:c.1271_1277delinsAGA
ENST00000374580.8:c.1271_1277delinsAGA
NM_001204.6:c.1271_1277delinsAGA , LRG_712t1:c.1271_1277delinsAGA
XM_011511687.1:c.1271_1277delinsAGA
XM_011511688.1:c.1271_1277delinsAGA
NM_001204.7:c.1271_1277delinsAGA