Canonical Allele Identifier: CA2662703519
Gene: BMPR2 HGNC NCBI

Linked Data

gnomAD v4: 2-202377190-TC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202377193del , CM000664.2:g.202377193del GRCh38
NC_000002.11:g.203241916del , CM000664.1:g.203241916del GRCh37
NC_000002.10:g.202950161del NCBI36
NG_009363.1:g.5867del , LRG_712:g.5867del

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.-282del MANE Select ENSP00000363708.4:n.-282del
ENST00000374580.8:c.-282del ENSP00000363708.4:n.-282del
NM_001204.6:c.-282del , LRG_712t1:c.-282del NP_001195.2:n.-282del
XM_011511687.1:c.-282del XP_011509989.1:n.-282del
XM_011511688.1:c.-282del XP_011509990.1:n.-282del
NM_001204.7:c.-282del MANE Select NP_001195.2:n.-282del
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