Canonical Allele Identifier: CA9758645
Gene: BMP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2903762
ClinVar RCV Id: RCV003726894
dbSNP Id: rs771718188
ExAC: 20:6751099 T / C
gnomAD v2: 20-6751099-T-C
gnomAD v4: 20-6770452-T-C
MyVariant Identifiers: chr20:g.6751099T>C (hg19) chr20:g.6770452T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.6770452T>C , CM000682.2:g.6770452T>C GRCh38
NC_000020.10:g.6751099T>C , CM000682.1:g.6751099T>C GRCh37
NC_000020.9:g.6699099T>C NCBI36
NG_023233.1:g.7355T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378827.5:c.326T>C MANE Select ENSP00000368104.3:p.Val109Ala
ENST00000378827.4:c.326T>C ENSP00000368104.3:p.Val109Ala
NM_001200.2:c.326T>C NP_001191.1:p.Val109Ala
XM_011529323.1:c.-123+1577T>C XP_011527625.1:n.-123+1577T>C
NM_001200.3:c.326T>C NP_001191.1:p.Val109Ala
NM_001200.4:c.326T>C MANE Select NP_001191.1:p.Val109Ala
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