Canonical Allele Identifier: CA645293817
Gene: BMPR2 HGNC NCBI

Linked Data

dbSNP Id: rs1085307261

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202518996_202518999del , CM000664.2:g.202518996_202518999del GRCh38
NC_000002.11:g.203383719_203383722del , CM000664.1:g.203383719_203383722del GRCh37
NC_000002.10:g.203091964_203091967del NCBI36
NG_009363.1:g.147670_147673del , LRG_712:g.147670_147673del

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.796_799del MANE Select ENSP00000363708.4:p.Arg266SerfsTer12
ENST00000638587.1:c.727_730del ENSP00000491062.1:p.Arg243SerfsTer12
ENST00000374574.2:c.796_799del ENSP00000363702.2:p.Arg266SerfsTer12
ENST00000374580.8:c.796_799del ENSP00000363708.4:p.Arg266SerfsTer12
NM_001204.6:c.796_799del , LRG_712t1:c.796_799del NP_001195.2:p.Arg266SerfsTer12
XM_011511687.1:c.796_799del XP_011509989.1:p.Arg266SerfsTer12
XM_011511688.1:c.796_799del XP_011509990.1:p.Arg266SerfsTer12
NM_001204.7:c.796_799del MANE Select NP_001195.2:p.Arg266SerfsTer12