Canonical Allele Identifier: CA2580065460
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1706635
ClinVar RCV Id: RCV002285244
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202530804del , CM000664.2:g.202530804del GRCh38
NC_000002.11:g.203395527del , CM000664.1:g.203395527del GRCh37
NC_000002.10:g.203103772del NCBI36
NG_009363.1:g.159478del , LRG_712:g.159478del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.978del MANE Select ENSP00000363708.4:p.Lys326AsnfsTer9
ENST00000638587.1:c.909del ENSP00000491062.1:p.Lys303AsnfsTer9
ENST00000374574.2:c.978del ENSP00000363702.2:p.Lys326AsnfsTer9
ENST00000374580.8:c.978del ENSP00000363708.4:p.Lys326AsnfsTer9
NM_001204.6:c.978del , LRG_712t1:c.978del NP_001195.2:p.Lys326AsnfsTer9
XM_011511687.1:c.978del XP_011509989.1:p.Lys326AsnfsTer9
XM_011511688.1:c.978del XP_011509990.1:p.Lys326AsnfsTer9
NM_001204.7:c.978del MANE Select NP_001195.2:p.Lys326AsnfsTer9
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