Canonical Allele Identifier: CA9758610
Gene: BMP2 HGNC NCBI

Linked Data

dbSNP Id: rs773801167
ExAC: 20:6750945 C / G
gnomAD v2: 20-6750945-C-G
gnomAD v4: 20-6770298-C-G
MyVariant Identifiers: chr20:g.6750945C>G (hg19) chr20:g.6770298C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.6770298C>G , CM000682.2:g.6770298C>G GRCh38
NC_000020.10:g.6750945C>G , CM000682.1:g.6750945C>G GRCh37
NC_000020.9:g.6698945C>G NCBI36
NG_023233.1:g.7201C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000378827.5:c.172C>G MANE Select ENSP00000368104.3:p.Leu58Val
ENST00000378827.4:c.172C>G ENSP00000368104.3:p.Leu58Val
NM_001200.2:c.172C>G NP_001191.1:p.Leu58Val
XM_011529323.1:c.-123+1423C>G XP_011527625.1:n.-123+1423C>G
NM_001200.3:c.172C>G NP_001191.1:p.Leu58Val
NM_001200.4:c.172C>G MANE Select NP_001191.1:p.Leu58Val
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