Canonical Allele Identifier: CA350396210
Gene: BMPR2 HGNC NCBI

Linked Data

dbSNP Id: rs771255805
gnomAD v2: 2-203241265-G-GGCGGCGGCGGCGGCA
gnomAD v3: 2-202376542-G-GGCGGCGGCGGCGGCA
gnomAD v4: 2-202376542-G-GGCGGCGGCGGCGGCA
MyVariant Identifiers: chr2:g.203241271delinsGGCGGCGGCAGCGGCA (hg19) chr2:g.203241265_203241266insGCGGCGGCGGCGGCA (hg19) chr2:g.202376548delinsGGCGGCGGCAGCGGCA (hg38) chr2:g.202376542_202376543insGCGGCGGCGGCGGCA (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202376547_202376548insGGCGGCGGCAGCGGC , CM000664.2:g.202376547_202376548insGGCGGCGGCAGCGGC GRCh38
NC_000002.11:g.203241270_203241271insGGCGGCGGCAGCGGC , CM000664.1:g.203241270_203241271insGGCGGCGGCAGCGGC GRCh37
NC_000002.10:g.202949515_202949516insGGCGGCGGCAGCGGC NCBI36
NG_009363.1:g.5221_5222insGGCGGCGGCAGCGGC , LRG_712:g.5221_5222insGGCGGCGGCAGCGGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.-928_-927insGGCGGCGGCAGCGGC MANE Select ENSP00000363708.4:n.-928_-927insGGCGGCGGCAGCGGC
NM_001204.6:c.-928_-927insGGCGGCGGCAGCGGC , LRG_712t1:c.-928_-927insGGCGGCGGCAGCGGC NP_001195.2:n.-928_-927insGGCGGCGGCAGCGGC
XM_011511687.1:c.-928_-927insGGCGGCGGCAGCGGC XP_011509989.1:n.-928_-927insGGCGGCGGCAGCGGC
XM_011511688.1:c.-928_-927insGGCGGCGGCAGCGGC XP_011509990.1:n.-928_-927insGGCGGCGGCAGCGGC
NM_001204.7:c.-928_-927insGGCGGCGGCAGCGGC MANE Select NP_001195.2:n.-928_-927insGGCGGCGGCAGCGGC
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