Canonical Allele Identifier: CA408258770
Gene: BMP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2500479
ClinVar RCV Id: RCV003225391
dbSNP Id: rs1410843089
gnomAD v3: 20-6778530-C-G
gnomAD v4: 20-6778530-C-G
MyVariant Identifiers: chr20:g.6759177C>G (hg19) chr20:g.6778530C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.6778530C>G , CM000682.2:g.6778530C>G GRCh38
NC_000020.10:g.6759177C>G , CM000682.1:g.6759177C>G GRCh37
NC_000020.9:g.6707177C>G NCBI36
NG_023233.1:g.15433C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000378827.5:c.632C>G MANE Select ENSP00000368104.3:p.Pro211Arg
ENST00000378827.4:c.632C>G ENSP00000368104.3:p.Pro211Arg
NM_001200.2:c.632C>G NP_001191.1:p.Pro211Arg
XM_011529323.1:c.164C>G XP_011527625.1:p.Pro55Arg
NM_001200.3:c.632C>G NP_001191.1:p.Pro211Arg
NM_001200.4:c.632C>G MANE Select NP_001191.1:p.Pro211Arg
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