Canonical Allele Identifier: CA645293960
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425996
dbSNP Id: rs1085307395

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202556245del , CM000664.2:g.202556245del GRCh38
NC_000002.11:g.203420968del , CM000664.1:g.203420968del GRCh37
NC_000002.10:g.203129213del NCBI36
NG_009363.1:g.184919del , LRG_712:g.184919del

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.2580del MANE Select ENSP00000363708.4:p.Asn861IlefsTer11
ENST00000638587.1:c.2511del ENSP00000491062.1:n.2511del
ENST00000374574.2:c.1586+3357del ENSP00000363702.2:n.1586+3357del
ENST00000374580.8:c.2580del ENSP00000363708.4:p.Asn861IlefsTer11
NM_001204.6:c.2580del , LRG_712t1:c.2580del NP_001195.2:p.Asn861IlefsTer11
XM_011511687.1:c.2580del XP_011509989.1:p.Asn861IlefsTer11
XM_011511688.1:c.1586+3357del XP_011509990.1:n.1586+3357del
NM_001204.7:c.2580del MANE Select NP_001195.2:p.Asn861IlefsTer11