Canonical Allele Identifier: CA509817895
Gene: BMP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1922988
ClinVar RCV Id: RCV002617913
dbSNP Id: rs1986371828
MyVariant Identifiers: chr20:g.6751037T>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.6770390T>A , CM000682.2:g.6770390T>A GRCh38
NC_000020.10:g.6751037T>A , CM000682.1:g.6751037T>A GRCh37
NC_000020.9:g.6699037T>A NCBI36
NG_023233.1:g.7293T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378827.5:c.264T>A MANE Select ENSP00000368104.3:p.Gly88=
ENST00000378827.4:c.264T>A ENSP00000368104.3:p.Gly88=
NM_001200.2:c.264T>A NP_001191.1:p.Gly88=
XM_011529323.1:c.-123+1515T>A XP_011527625.1:n.-123+1515T>A
NM_001200.3:c.264T>A NP_001191.1:p.Gly88=
NM_001200.4:c.264T>A MANE Select NP_001191.1:p.Gly88=
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