Canonical Allele Identifier: CA1321472531
Gene: BMPR2 HGNC NCBI

Linked Data

dbSNP Id: rs1690142158
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202376455del , CM000664.2:g.202376455del GRCh38
NC_000002.11:g.203241178del , CM000664.1:g.203241178del GRCh37
NC_000002.10:g.202949423del NCBI36
NG_009363.1:g.5129del , LRG_712:g.5129del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.-1020del MANE Select ENSP00000363708.4:n.-1020del
NM_001204.6:c.-1020del , LRG_712t1:c.-1020del NP_001195.2:n.-1020del
XM_011511687.1:c.-1020del XP_011509989.1:n.-1020del
XM_011511688.1:c.-1020del XP_011509990.1:n.-1020del
NM_001204.7:c.-1020del MANE Select NP_001195.2:n.-1020del
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