Canonical Allele Identifier: CA2651859148
Gene: BMP2 HGNC NCBI

Linked Data

gnomAD v4: 20-6770487-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.6770487A>C , CM000682.2:g.6770487A>C GRCh38
NC_000020.10:g.6751134A>C , CM000682.1:g.6751134A>C GRCh37
NC_000020.9:g.6699134A>C NCBI36
NG_023233.1:g.7390A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378827.5:c.346+15A>C MANE Select ENSP00000368104.3:n.346+15A>C
ENST00000378827.4:c.346+15A>C ENSP00000368104.3:n.346+15A>C
NM_001200.2:c.346+15A>C NP_001191.1:n.346+15A>C
XM_011529323.1:c.-123+1612A>C XP_011527625.1:n.-123+1612A>C
NM_001200.3:c.346+15A>C NP_001191.1:n.346+15A>C
NM_001200.4:c.346+15A>C MANE Select NP_001191.1:n.346+15A>C