Canonical Allele Identifier: CA2839614450
Gene: BMP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.6770374dup , CM000682.2:g.6770374dup GRCh38
NC_000020.10:g.6751021dup , CM000682.1:g.6751021dup GRCh37
NC_000020.9:g.6699021dup NCBI36
NG_023233.1:g.7277dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000378827.5:c.248dup MANE Select ENSP00000368104.3:p.Tyr83Ter
ENST00000378827.4:c.248dup ENSP00000368104.3:p.Tyr83Ter
NM_001200.2:c.248dup NP_001191.1:p.Tyr83Ter
XM_011529323.1:c.-123+1499dup XP_011527625.1:n.-123+1499dup
NM_001200.3:c.248dup NP_001191.1:p.Tyr83Ter
NM_001200.4:c.248dup MANE Select NP_001191.1:p.Tyr83Ter