Canonical Allele Identifier: CA539000925
Gene: BMPR2 HGNC NCBI

Linked Data

dbSNP Id: rs1553583997
gnomAD v2: 2-203241265-GGCGGCA-G
gnomAD v3: 2-202376542-GGCGGCA-G
gnomAD v4: 2-202376542-GGCGGCA-G
MyVariant Identifiers: chr2:g.203241266_203241271del (hg19) chr2:g.202376543_202376548del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202376545_202376550del , CM000664.2:g.202376545_202376550del GRCh38
NC_000002.11:g.203241268_203241273del , CM000664.1:g.203241268_203241273del GRCh37
NC_000002.10:g.202949513_202949518del NCBI36
NG_009363.1:g.5219_5224del , LRG_712:g.5219_5224del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.-930_-925del MANE Select ENSP00000363708.4:n.-930_-925del
NM_001204.6:c.-930_-925del , LRG_712t1:c.-930_-925del NP_001195.2:n.-930_-925del
XM_011511687.1:c.-930_-925del XP_011509989.1:n.-930_-925del
XM_011511688.1:c.-930_-925del XP_011509990.1:n.-930_-925del
NM_001204.7:c.-930_-925del MANE Select NP_001195.2:n.-930_-925del
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