Canonical Allele Identifier: CA645293943
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425977
ClinVar RCV Id: RCV000488643
dbSNP Id: rs1085307377

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202555956dup , CM000664.2:g.202555956dup GRCh38
NC_000002.11:g.203420679dup , CM000664.1:g.203420679dup GRCh37
NC_000002.10:g.203128924dup NCBI36
NG_009363.1:g.184630dup , LRG_712:g.184630dup

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.2291dup MANE Select ENSP00000363708.4:p.Asn764LysfsTer?
ENST00000638587.1:c.2222dup ENSP00000491062.1:n.2222dup
ENST00000374574.2:c.1586+3068dup ENSP00000363702.2:n.1586+3068dup
ENST00000374580.8:c.2291dup ENSP00000363708.4:p.Asn764LysfsTer?
NM_001204.6:c.2291dup , LRG_712t1:c.2291dup NP_001195.2:p.Asn764LysfsTer?
XM_011511687.1:c.2291dup XP_011509989.1:p.Asn764LysfsTer?
XM_011511688.1:c.1586+3068dup XP_011509990.1:n.1586+3068dup
NM_001204.7:c.2291dup MANE Select NP_001195.2:p.Asn764LysfsTer?