Canonical Allele Identifier: CA9758609
Gene: BMP2 HGNC NCBI

Linked Data

dbSNP Id: rs768217398
ExAC: 20:6750941 G / C
gnomAD v2: 20-6750941-G-C
gnomAD v3: 20-6770294-G-C
gnomAD v4: 20-6770294-G-C
MyVariant Identifiers: chr20:g.6750941G>C (hg19) chr20:g.6770294G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.6770294G>C , CM000682.2:g.6770294G>C GRCh38
NC_000020.10:g.6750941G>C , CM000682.1:g.6750941G>C GRCh37
NC_000020.9:g.6698941G>C NCBI36
NG_023233.1:g.7197G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378827.5:c.168G>C MANE Select ENSP00000368104.3:p.Arg56=
ENST00000378827.4:c.168G>C ENSP00000368104.3:p.Arg56=
NM_001200.2:c.168G>C NP_001191.1:p.Arg56=
XM_011529323.1:c.-123+1419G>C XP_011527625.1:n.-123+1419G>C
NM_001200.3:c.168G>C NP_001191.1:p.Arg56=
NM_001200.4:c.168G>C MANE Select NP_001191.1:p.Arg56=
Search 100 bp 5'
Search 100 bp 3'