Canonical Allele Identifier: CA408260376
Gene: BMP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.6770295C>A , CM000682.2:g.6770295C>A GRCh38
NC_000020.10:g.6750942C>A , CM000682.1:g.6750942C>A GRCh37
NC_000020.9:g.6698942C>A NCBI36
NG_023233.1:g.7198C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378827.5:c.169C>A MANE Select ENSP00000368104.3:p.Leu57Met
ENST00000378827.4:c.169C>A ENSP00000368104.3:p.Leu57Met
NM_001200.2:c.169C>A NP_001191.1:p.Leu57Met
XM_011529323.1:c.-123+1420C>A XP_011527625.1:n.-123+1420C>A
NM_001200.3:c.169C>A NP_001191.1:p.Leu57Met
NM_001200.4:c.169C>A MANE Select NP_001191.1:p.Leu57Met