Canonical Allele Identifier: CA915941656
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 812833
ClinVar RCV Id: RCV001003727
dbSNP Id: rs1574505321
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202552792_202552809del , CM000664.2:g.202552792_202552809del GRCh38
NC_000002.11:g.203417515_203417532del , CM000664.1:g.203417515_203417532del GRCh37
NC_000002.10:g.203125760_203125777del NCBI36
NG_009363.1:g.181466_181483del , LRG_712:g.181466_181483del

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.1490_1507del MANE Select ENSP00000363708.4:p.Ala497_Ala502del
ENST00000638587.1:c.1421_1438del ENSP00000491062.1:p.Ala474_Ala479del
ENST00000374574.2:c.1490_1507del ENSP00000363702.2:p.Ala497_Ala502del
ENST00000374580.8:c.1490_1507del ENSP00000363708.4:p.Ala497_Ala502del
NM_001204.6:c.1490_1507del , LRG_712t1:c.1490_1507del NP_001195.2:p.Ala497_Ala502del
XM_011511687.1:c.1490_1507del XP_011509989.1:p.Ala497_Ala502del
XM_011511688.1:c.1490_1507del XP_011509990.1:p.Ala497_Ala502del
NM_001204.7:c.1490_1507del MANE Select NP_001195.2:p.Ala497_Ala502del
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