Canonical Allele Identifier: CA916754124
Gene: BMPR2 HGNC NCBI

Linked Data

dbSNP Id: rs1574488218
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202518737_202518738del , CM000664.2:g.202518737_202518738del GRCh38
NC_000002.11:g.203383460_203383461del , CM000664.1:g.203383460_203383461del GRCh37
NC_000002.10:g.203091705_203091706del NCBI36
NG_009363.1:g.147411_147412del , LRG_712:g.147411_147412del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.622-85_622-84del MANE Select ENSP00000363708.4:n.622-85_622-84del
ENST00000638587.1:c.553-85_553-84del ENSP00000491062.1:n.553-85_553-84del
ENST00000374574.2:c.622-85_622-84del ENSP00000363702.2:n.622-85_622-84del
ENST00000374580.8:c.622-85_622-84del ENSP00000363708.4:n.622-85_622-84del
NM_001204.6:c.622-85_622-84del , LRG_712t1:c.622-85_622-84del NP_001195.2:n.622-85_622-84del
XM_011511687.1:c.622-85_622-84del XP_011509989.1:n.622-85_622-84del
XM_011511688.1:c.622-85_622-84del XP_011509990.1:n.622-85_622-84del
NM_001204.7:c.622-85_622-84del MANE Select NP_001195.2:n.622-85_622-84del
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