Canonical Allele Identifier: CA9758599
Gene: BMP2 HGNC NCBI

Linked Data

dbSNP Id: rs766616005
ExAC: 20:6750879 GCGT / G
gnomAD v2: 20-6750879-GCGT-G
gnomAD v4: 20-6770232-GCGT-G
MyVariant Identifiers: chr20:g.6750880_6750882del (hg19) chr20:g.6770233_6770235del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.6770238_6770240del , CM000682.2:g.6770238_6770240del GRCh38
NC_000020.10:g.6750885_6750887del , CM000682.1:g.6750885_6750887del GRCh37
NC_000020.9:g.6698885_6698887del NCBI36
NG_023233.1:g.7141_7143del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378827.5:c.112_114del MANE Select ENSP00000368104.3:p.Ser38del
ENST00000378827.4:c.112_114del ENSP00000368104.3:p.Ser38del
NM_001200.2:c.112_114del NP_001191.1:p.Ser38del
XM_011529323.1:c.-123+1363_-123+1365del XP_011527625.1:n.-123+1363_-123+1365del
NM_001200.3:c.112_114del NP_001191.1:p.Ser38del
NM_001200.4:c.112_114del MANE Select NP_001191.1:p.Ser38del
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