Canonical Allele Identifier: CA9758717
Gene: BMP2 HGNC NCBI

Linked Data

dbSNP Id: rs761359724
ExAC: 20:6759178 C / G
gnomAD v2: 20-6759178-C-G
gnomAD v4: 20-6778531-C-G
MyVariant Identifiers: chr20:g.6759178C>G (hg19) chr20:g.6778531C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.6778531C>G , CM000682.2:g.6778531C>G GRCh38
NC_000020.10:g.6759178C>G , CM000682.1:g.6759178C>G GRCh37
NC_000020.9:g.6707178C>G NCBI36
NG_023233.1:g.15434C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000378827.5:c.633C>G MANE Select ENSP00000368104.3:p.Pro211=
ENST00000378827.4:c.633C>G ENSP00000368104.3:p.Pro211=
NM_001200.2:c.633C>G NP_001191.1:p.Pro211=
XM_011529323.1:c.165C>G XP_011527625.1:p.Pro55=
NM_001200.3:c.633C>G NP_001191.1:p.Pro211=
NM_001200.4:c.633C>G MANE Select NP_001191.1:p.Pro211=
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