Canonical Allele Identifier: CA645293948
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425984
dbSNP Id: rs1085307383

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202556075_202556078del , CM000664.2:g.202556075_202556078del GRCh38
NC_000002.11:g.203420798_203420801del , CM000664.1:g.203420798_203420801del GRCh37
NC_000002.10:g.203129043_203129046del NCBI36
NG_009363.1:g.184749_184752del , LRG_712:g.184749_184752del

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.2410_2413del MANE Select ENSP00000363708.4:p.Val804ProfsTer2
ENST00000638587.1:c.2341_2344del ENSP00000491062.1:n.2341_2344del
ENST00000374574.2:c.1586+3187_1586+3190del ENSP00000363702.2:n.1586+3187_1586+3190de...
ENST00000374580.8:c.2410_2413del ENSP00000363708.4:p.Val804ProfsTer2
NM_001204.6:c.2410_2413del , LRG_712t1:c.2410_2413del NP_001195.2:p.Val804ProfsTer2
XM_011511687.1:c.2410_2413del XP_011509989.1:p.Val804ProfsTer2
XM_011511688.1:c.1586+3187_1586+3190del XP_011509990.1:n.1586+3187_1586+3190del
NM_001204.7:c.2410_2413del MANE Select NP_001195.2:p.Val804ProfsTer2