Canonical Allele Identifier: CA539000907
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 3041823
ClinVar RCV Id: RCV004551042
dbSNP Id: rs375624016
gnomAD v2: 2-203241234-AGGCGGCGGC-A
gnomAD v3: 2-202376511-AGGCGGCGGC-A
gnomAD v4: 2-202376511-AGGCGGCGGC-A
MyVariant Identifiers: chr2:g.203241235_203241243del (hg19) chr2:g.202376512_202376520del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202376539_202376547del , CM000664.2:g.202376539_202376547del GRCh38
NC_000002.11:g.203241262_203241270del , CM000664.1:g.203241262_203241270del GRCh37
NC_000002.10:g.202949507_202949515del NCBI36
NG_009363.1:g.5213_5221del , LRG_712:g.5213_5221del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.-936_-928del MANE Select ENSP00000363708.4:n.-936_-928del
NM_001204.6:c.-936_-928del , LRG_712t1:c.-936_-928del NP_001195.2:n.-936_-928del
XM_011511687.1:c.-936_-928del XP_011509989.1:n.-936_-928del
XM_011511688.1:c.-936_-928del XP_011509990.1:n.-936_-928del
NM_001204.7:c.-936_-928del MANE Select NP_001195.2:n.-936_-928del
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