Canonical Allele Identifier: CA645293958
Gene: BMPR2 HGNC NCBI

Linked Data

dbSNP Id: rs1085307392

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202556186_202556187dup , CM000664.2:g.202556186_202556187dup GRCh38
NC_000002.11:g.203420909_203420910dup , CM000664.1:g.203420909_203420910dup GRCh37
NC_000002.10:g.203129154_203129155dup NCBI36
NG_009363.1:g.184860_184861dup , LRG_712:g.184860_184861dup

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.2521_2522dup MANE Select ENSP00000363708.4:p.Arg842IlefsTer18
ENST00000638587.1:c.2452_2453dup ENSP00000491062.1:n.2452_2453dup
ENST00000374574.2:c.1586+3298_1586+3299dup ENSP00000363702.2:n.1586+3298_1586+3299du...
ENST00000374580.8:c.2521_2522dup ENSP00000363708.4:p.Arg842IlefsTer18
NM_001204.6:c.2521_2522dup , LRG_712t1:c.2521_2522dup NP_001195.2:p.Arg842IlefsTer18
XM_011511687.1:c.2521_2522dup XP_011509989.1:p.Arg842IlefsTer18
XM_011511688.1:c.1586+3298_1586+3299dup XP_011509990.1:n.1586+3298_1586+3299dup
NM_001204.7:c.2521_2522dup MANE Select NP_001195.2:p.Arg842IlefsTer18