Canonical Allele Identifier: CA408258679
Gene: BMP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.6778492T>A , CM000682.2:g.6778492T>A GRCh38
NC_000020.10:g.6759139T>A , CM000682.1:g.6759139T>A GRCh37
NC_000020.9:g.6707139T>A NCBI36
NG_023233.1:g.15395T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378827.5:c.594T>A MANE Select ENSP00000368104.3:p.Asn198Lys
ENST00000378827.4:c.594T>A ENSP00000368104.3:p.Asn198Lys
NM_001200.2:c.594T>A NP_001191.1:p.Asn198Lys
XM_011529323.1:c.126T>A XP_011527625.1:p.Asn42Lys
NM_001200.3:c.594T>A NP_001191.1:p.Asn198Lys
NM_001200.4:c.594T>A MANE Select NP_001191.1:p.Asn198Lys