Canonical Allele Identifier: CA9758612
Gene: BMP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2388682
ClinVar RCV Id: RCV002703826
dbSNP Id: rs147880089
ExAC: 20:6750948 A / G
gnomAD v2: 20-6750948-A-G
gnomAD v3: 20-6770301-A-G
gnomAD v4: 20-6770301-A-G
MyVariant Identifiers: chr20:g.6750948A>G (hg19) chr20:g.6770301A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.6770301A>G , CM000682.2:g.6770301A>G GRCh38
NC_000020.10:g.6750948A>G , CM000682.1:g.6750948A>G GRCh37
NC_000020.9:g.6698948A>G NCBI36
NG_023233.1:g.7204A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378827.5:c.175A>G MANE Select ENSP00000368104.3:p.Ser59Gly
ENST00000378827.4:c.175A>G ENSP00000368104.3:p.Ser59Gly
NM_001200.2:c.175A>G NP_001191.1:p.Ser59Gly
XM_011529323.1:c.-123+1426A>G XP_011527625.1:n.-123+1426A>G
NM_001200.3:c.175A>G NP_001191.1:p.Ser59Gly
NM_001200.4:c.175A>G MANE Select NP_001191.1:p.Ser59Gly
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