Canonical Allele Identifier: CA509817736
Gene: BMP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.6750938G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.6770291G>A , CM000682.2:g.6770291G>A GRCh38
NC_000020.10:g.6750938G>A , CM000682.1:g.6750938G>A GRCh37
NC_000020.9:g.6698938G>A NCBI36
NG_023233.1:g.7194G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378827.5:c.165G>A MANE Select ENSP00000368104.3:p.Leu55=
ENST00000378827.4:c.165G>A ENSP00000368104.3:p.Leu55=
NM_001200.2:c.165G>A NP_001191.1:p.Leu55=
XM_011529323.1:c.-123+1416G>A XP_011527625.1:n.-123+1416G>A
NM_001200.3:c.165G>A NP_001191.1:p.Leu55=
NM_001200.4:c.165G>A MANE Select NP_001191.1:p.Leu55=