Canonical Allele Identifier: CA645293823
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425890
ClinVar RCV Id: RCV000488863
dbSNP Id: rs1085307310
MyVariant Identifiers: chr2:g.203397370_203397371del (hg19) chr2:g.202532647_202532648del (hg38)
PubMed: PMID:11115378 PMID:19555857 PMID:26387786
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202532647_202532648del , CM000664.2:g.202532647_202532648del GRCh38
NC_000002.11:g.203397370_203397371del , CM000664.1:g.203397370_203397371del GRCh37
NC_000002.10:g.203105615_203105616del NCBI36
NG_009363.1:g.161321_161322del , LRG_712:g.161321_161322del

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.1191_1192del MANE Select ENSP00000363708.4:p.Cys397Ter
ENST00000638587.1:c.1122_1123del ENSP00000491062.1:p.Cys374Ter
ENST00000374574.2:c.1191_1192del ENSP00000363702.2:p.Cys397Ter
ENST00000374580.8:c.1191_1192del ENSP00000363708.4:p.Cys397Ter
NM_001204.6:c.1191_1192del , LRG_712t1:c.1191_1192del NP_001195.2:p.Cys397Ter
XM_011511687.1:c.1191_1192del XP_011509989.1:p.Cys397Ter
XM_011511688.1:c.1191_1192del XP_011509990.1:p.Cys397Ter
NM_001204.7:c.1191_1192del MANE Select NP_001195.2:p.Cys397Ter
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