Canonical Allele Identifier: CA408260071
Gene: BMP2 HGNC NCBI

Linked Data

gnomAD v4: 20-6770140-C-A

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000378827.5:c.14C>A MANE Select ENSP00000368104.3:p.Thr5Asn
ENST00000378827.4:c.14C>A ENSP00000368104.3:p.Thr5Asn
NM_001200.2:c.14C>A NP_001191.1:p.Thr5Asn
XM_011529323.1:c.-123+1265C>A XP_011527625.1:n.-123+1265C>A
NM_001200.3:c.14C>A NP_001191.1:p.Thr5Asn
NM_001200.4:c.14C>A MANE Select NP_001191.1:p.Thr5Asn