Canonical Allele Identifier: CA408258667
Gene: BMP2 HGNC NCBI

Linked Data

dbSNP Id: rs180897623
gnomAD v3: 20-6778487-G-A
gnomAD v4: 20-6778487-G-A
MyVariant Identifiers: chr20:g.6759134G>A (hg19) chr20:g.6778487G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.6778487G>A , CM000682.2:g.6778487G>A GRCh38
NC_000020.10:g.6759134G>A , CM000682.1:g.6759134G>A GRCh37
NC_000020.9:g.6707134G>A NCBI36
NG_023233.1:g.15390G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000378827.5:c.589G>A MANE Select ENSP00000368104.3:p.Val197Met
ENST00000378827.4:c.589G>A ENSP00000368104.3:p.Val197Met
NM_001200.2:c.589G>A NP_001191.1:p.Val197Met
XM_011529323.1:c.121G>A XP_011527625.1:p.Val41Met
NM_001200.3:c.589G>A NP_001191.1:p.Val197Met
NM_001200.4:c.589G>A MANE Select NP_001191.1:p.Val197Met
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