Canonical Allele Identifier: CA408260378
Gene: BMP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.6770296T>A , CM000682.2:g.6770296T>A GRCh38
NC_000020.10:g.6750943T>A , CM000682.1:g.6750943T>A GRCh37
NC_000020.9:g.6698943T>A NCBI36
NG_023233.1:g.7199T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000378827.5:c.170T>A MANE Select ENSP00000368104.3:p.Leu57Gln
ENST00000378827.4:c.170T>A ENSP00000368104.3:p.Leu57Gln
NM_001200.2:c.170T>A NP_001191.1:p.Leu57Gln
XM_011529323.1:c.-123+1421T>A XP_011527625.1:n.-123+1421T>A
NM_001200.3:c.170T>A NP_001191.1:p.Leu57Gln
NM_001200.4:c.170T>A MANE Select NP_001191.1:p.Leu57Gln