Canonical Allele Identifier: CA311471109
Gene: BMP2 HGNC NCBI

Linked Data

dbSNP Id: rs890872727
gnomAD v2: 20-6750940-G-A
gnomAD v3: 20-6770293-G-A
gnomAD v4: 20-6770293-G-A
MyVariant Identifiers: chr20:g.6750940G>A (hg19) chr20:g.6770293G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.6770293G>A , CM000682.2:g.6770293G>A GRCh38
NC_000020.10:g.6750940G>A , CM000682.1:g.6750940G>A GRCh37
NC_000020.9:g.6698940G>A NCBI36
NG_023233.1:g.7196G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000378827.5:c.167G>A MANE Select ENSP00000368104.3:p.Arg56Gln
ENST00000378827.4:c.167G>A ENSP00000368104.3:p.Arg56Gln
NM_001200.2:c.167G>A NP_001191.1:p.Arg56Gln
XM_011529323.1:c.-123+1418G>A XP_011527625.1:n.-123+1418G>A
NM_001200.3:c.167G>A NP_001191.1:p.Arg56Gln
NM_001200.4:c.167G>A MANE Select NP_001191.1:p.Arg56Gln
Search 100 bp 5'
Search 100 bp 3'