Canonical Allele Identifier: CA408258684
Gene: BMP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.6778494A>C , CM000682.2:g.6778494A>C GRCh38
NC_000020.10:g.6759141A>C , CM000682.1:g.6759141A>C GRCh37
NC_000020.9:g.6707141A>C NCBI36
NG_023233.1:g.15397A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378827.5:c.596A>C MANE Select ENSP00000368104.3:p.Gln199Pro
ENST00000378827.4:c.596A>C ENSP00000368104.3:p.Gln199Pro
NM_001200.2:c.596A>C NP_001191.1:p.Gln199Pro
XM_011529323.1:c.128A>C XP_011527625.1:p.Gln43Pro
NM_001200.3:c.596A>C NP_001191.1:p.Gln199Pro
NM_001200.4:c.596A>C MANE Select NP_001191.1:p.Gln199Pro