Canonical Allele Identifier: CA645293985
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425849
dbSNP Id: rs1085307278

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202520205del , CM000664.2:g.202520205del GRCh38
NC_000002.11:g.203384928del , CM000664.1:g.203384928del GRCh37
NC_000002.10:g.203093173del NCBI36
NG_009363.1:g.148879del , LRG_712:g.148879del

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.967+4del MANE Select ENSP00000363708.4:n.967+4del
ENST00000638587.1:c.898+4del ENSP00000491062.1:n.898+4del
ENST00000374574.2:c.967+4del ENSP00000363702.2:n.967+4del
ENST00000374580.8:c.967+4del ENSP00000363708.4:n.967+4del
NM_001204.6:c.967+4del , LRG_712t1:c.967+4del NP_001195.2:n.967+4del
XM_011511687.1:c.967+4del XP_011509989.1:n.967+4del
XM_011511688.1:c.967+4del XP_011509990.1:n.967+4del
NM_001204.7:c.967+4del MANE Select NP_001195.2:n.967+4del