Canonical Allele Identifier: CA9758643
Gene: BMP2 HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.6770442G>A
GRCh37 chr20:g.6751089G>A
Revel Score:
ENST00000378827 (MANE Select) 0.506
gnomAD v2:
20:6751089 G / A
gnomAD v3:
20:6770442 G / A
gnomAD v4:
chr20-6770442-G-A
Joint Max Group AF 0.00273192 (EAS)
Genomes Max Group AF 0.000636 (EAS)
Exomes Max Group AF 0.00292425 (EAS)
ClinVar RCV:
RCV003143799
ClinVar Variation:
2439530
dbSNP:
2273074
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.6770442G>A , CM000682.2:g.6770442G>A GRCh38
NC_000020.10:g.6751089G>A , CM000682.1:g.6751089G>A GRCh37
NC_000020.9:g.6699089G>A NCBI36
NG_023233.1:g.7345G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378827.5:c.316G>A MANE Select ENSP00000368104.3:p.Ala106Thr
ENST00000378827.4:c.316G>A ENSP00000368104.3:p.Ala106Thr
NM_001200.2:c.316G>A NP_001191.1:p.Ala106Thr
XM_011529323.1:c.-123+1567G>A XP_011527625.1:n.-123+1567G>A
NM_001200.3:c.316G>A NP_001191.1:p.Ala106Thr
NM_001200.4:c.316G>A MANE Select NP_001191.1:p.Ala106Thr
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