Canonical Allele Identifier: CA509817885
Gene: BMP2 HGNC NCBI

Linked Data

dbSNP Id: rs374359416
gnomAD v2: 20-6759175-C-A
gnomAD v3: 20-6778528-C-A
gnomAD v4: 20-6778528-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.6778528C>A , CM000682.2:g.6778528C>A GRCh38
NC_000020.10:g.6759175C>A , CM000682.1:g.6759175C>A GRCh37
NC_000020.9:g.6707175C>A NCBI36
NG_023233.1:g.15431C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378827.5:c.630C>A MANE Select ENSP00000368104.3:p.Thr210=
ENST00000378827.4:c.630C>A ENSP00000368104.3:p.Thr210=
NM_001200.2:c.630C>A NP_001191.1:p.Thr210=
XM_011529323.1:c.162C>A XP_011527625.1:p.Thr54=
NM_001200.3:c.630C>A NP_001191.1:p.Thr210=
NM_001200.4:c.630C>A MANE Select NP_001191.1:p.Thr210=