Canonical Allele Identifier: CA9758632
Gene: BMP2 HGNC NCBI

Linked Data

dbSNP Id: rs776361118
gnomAD v2: 20-6751036-G-A
gnomAD v4: 20-6770389-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.6770389G>A , CM000682.2:g.6770389G>A GRCh38
NC_000020.10:g.6751036G>A , CM000682.1:g.6751036G>A GRCh37
NC_000020.9:g.6699036G>A NCBI36
NG_023233.1:g.7292G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000378827.5:c.263G>A MANE Select ENSP00000368104.3:p.Gly88Asp
ENST00000378827.4:c.263G>A ENSP00000368104.3:p.Gly88Asp
NM_001200.2:c.263G>A NP_001191.1:p.Gly88Asp
XM_011529323.1:c.-123+1514G>A XP_011527625.1:n.-123+1514G>A
NM_001200.3:c.263G>A NP_001191.1:p.Gly88Asp
NM_001200.4:c.263G>A MANE Select NP_001191.1:p.Gly88Asp