Canonical Allele Identifier: CA408258463
Gene: BMP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.6778395G>A , CM000682.2:g.6778395G>A GRCh38
NC_000020.10:g.6759042G>A , CM000682.1:g.6759042G>A GRCh37
NC_000020.9:g.6707042G>A NCBI36
NG_023233.1:g.15298G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378827.5:c.497G>A MANE Select ENSP00000368104.3:p.Ser166Asn
ENST00000378827.4:c.497G>A ENSP00000368104.3:p.Ser166Asn
NM_001200.2:c.497G>A NP_001191.1:p.Ser166Asn
XM_011529323.1:c.29G>A XP_011527625.1:p.Ser10Asn
NM_001200.3:c.497G>A NP_001191.1:p.Ser166Asn
NM_001200.4:c.497G>A MANE Select NP_001191.1:p.Ser166Asn