Canonical Allele Identifier: CA9758618
Gene: BMP2 HGNC NCBI

Linked Data

dbSNP Id: rs764226242
ExAC: 20:6750968 G / A
gnomAD v2: 20-6750968-G-A
gnomAD v4: 20-6770321-G-A
MyVariant Identifiers: chr20:g.6750968G>A (hg19) chr20:g.6770321G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.6770321G>A , CM000682.2:g.6770321G>A GRCh38
NC_000020.10:g.6750968G>A , CM000682.1:g.6750968G>A GRCh37
NC_000020.9:g.6698968G>A NCBI36
NG_023233.1:g.7224G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378827.5:c.195G>A MANE Select ENSP00000368104.3:p.Gln65=
ENST00000378827.4:c.195G>A ENSP00000368104.3:p.Gln65=
NM_001200.2:c.195G>A NP_001191.1:p.Gln65=
XM_011529323.1:c.-123+1446G>A XP_011527625.1:n.-123+1446G>A
NM_001200.3:c.195G>A NP_001191.1:p.Gln65=
NM_001200.4:c.195G>A MANE Select NP_001191.1:p.Gln65=
Search 100 bp 5'
Search 100 bp 3'