Canonical Allele Identifier: CA916754366
Gene: BMPR2 HGNC NCBI

Linked Data

dbSNP Id: rs869160917
gnomAD v4: 2-202530671-CT-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202530678del , CM000664.2:g.202530678del GRCh38
NC_000002.11:g.203395401del , CM000664.1:g.203395401del GRCh37
NC_000002.10:g.203103646del NCBI36
NG_009363.1:g.159352del , LRG_712:g.159352del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.968-116del MANE Select ENSP00000363708.4:n.968-116del
ENST00000638587.1:c.899-116del ENSP00000491062.1:n.899-116del
ENST00000374574.2:c.968-116del ENSP00000363702.2:n.968-116del
ENST00000374580.8:c.968-116del ENSP00000363708.4:n.968-116del
NM_001204.6:c.968-116del , LRG_712t1:c.968-116del NP_001195.2:n.968-116del
XM_011511687.1:c.968-116del XP_011509989.1:n.968-116del
XM_011511688.1:c.968-116del XP_011509990.1:n.968-116del
NM_001204.7:c.968-116del MANE Select NP_001195.2:n.968-116del
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