Canonical Allele Identifier: CA9758606
Gene: BMP2 HGNC NCBI

Linked Data

dbSNP Id: rs769299110
ExAC: 20:6750914 C / A
gnomAD v2: 20-6750914-C-A
gnomAD v3: 20-6770267-C-A
gnomAD v4: 20-6770267-C-A
MyVariant Identifiers: chr20:g.6750914C>A (hg19) chr20:g.6770267C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.6770267C>A , CM000682.2:g.6770267C>A GRCh38
NC_000020.10:g.6750914C>A , CM000682.1:g.6750914C>A GRCh37
NC_000020.9:g.6698914C>A NCBI36
NG_023233.1:g.7170C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378827.5:c.141C>A MANE Select ENSP00000368104.3:p.Asp47Glu
ENST00000378827.4:c.141C>A ENSP00000368104.3:p.Asp47Glu
NM_001200.2:c.141C>A NP_001191.1:p.Asp47Glu
XM_011529323.1:c.-123+1392C>A XP_011527625.1:n.-123+1392C>A
NM_001200.3:c.141C>A NP_001191.1:p.Asp47Glu
NM_001200.4:c.141C>A MANE Select NP_001191.1:p.Asp47Glu
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