Canonical Allele Identifier: CA9758587
Gene: BMP2 HGNC NCBI

Linked Data

dbSNP Id: rs527356831
gnomAD v2: 20-6750787-C-G
gnomAD v3: 20-6770140-C-G
gnomAD v4: 20-6770140-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.6770140C>G , CM000682.2:g.6770140C>G GRCh38
NC_000020.10:g.6750787C>G , CM000682.1:g.6750787C>G GRCh37
NC_000020.9:g.6698787C>G NCBI36
NG_023233.1:g.7043C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378827.5:c.14C>G MANE Select ENSP00000368104.3:p.Thr5Ser
ENST00000378827.4:c.14C>G ENSP00000368104.3:p.Thr5Ser
NM_001200.2:c.14C>G NP_001191.1:p.Thr5Ser
XM_011529323.1:c.-123+1265C>G XP_011527625.1:n.-123+1265C>G
NM_001200.3:c.14C>G NP_001191.1:p.Thr5Ser
NM_001200.4:c.14C>G MANE Select NP_001191.1:p.Thr5Ser