Canonical Allele Identifier: CA9758627
Gene: BMP2 HGNC NCBI

Linked Data

dbSNP Id: rs778541895
ExAC: 20:6751010 G / A
gnomAD v2: 20-6751010-G-A
gnomAD v4: 20-6770363-G-A
MyVariant Identifiers: chr20:g.6751010G>A (hg19) chr20:g.6770363G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.6770363G>A , CM000682.2:g.6770363G>A GRCh38
NC_000020.10:g.6751010G>A , CM000682.1:g.6751010G>A GRCh37
NC_000020.9:g.6699010G>A NCBI36
NG_023233.1:g.7266G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378827.5:c.237G>A MANE Select ENSP00000368104.3:p.Met79Ile
ENST00000378827.4:c.237G>A ENSP00000368104.3:p.Met79Ile
NM_001200.2:c.237G>A NP_001191.1:p.Met79Ile
XM_011529323.1:c.-123+1488G>A XP_011527625.1:n.-123+1488G>A
NM_001200.3:c.237G>A NP_001191.1:p.Met79Ile
NM_001200.4:c.237G>A MANE Select NP_001191.1:p.Met79Ile
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