Canonical Allele Identifier: CA408260440
Gene: BMP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 597112
ClinVar RCV Id: RCV000733134
dbSNP Id: rs1568547677
gnomAD v4: 20-6770326-C-G
MyVariant Identifiers: chr20:g.6750973C>G (hg19) chr20:g.6770326C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.6770326C>G , CM000682.2:g.6770326C>G GRCh38
NC_000020.10:g.6750973C>G , CM000682.1:g.6750973C>G GRCh37
NC_000020.9:g.6698973C>G NCBI36
NG_023233.1:g.7229C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378827.5:c.200C>G MANE Select ENSP00000368104.3:p.Pro67Arg
ENST00000378827.4:c.200C>G ENSP00000368104.3:p.Pro67Arg
NM_001200.2:c.200C>G NP_001191.1:p.Pro67Arg
XM_011529323.1:c.-123+1451C>G XP_011527625.1:n.-123+1451C>G
NM_001200.3:c.200C>G NP_001191.1:p.Pro67Arg
NM_001200.4:c.200C>G MANE Select NP_001191.1:p.Pro67Arg
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