Canonical Allele Identifier: CA9758622
Gene: BMP2 HGNC NCBI

Linked Data

dbSNP Id: rs750747484
ExAC: 20:6750980 C / G
gnomAD v2: 20-6750980-C-G
gnomAD v4: 20-6770333-C-G
MyVariant Identifiers: chr20:g.6750980C>G (hg19) chr20:g.6770333C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.6770333C>G , CM000682.2:g.6770333C>G GRCh38
NC_000020.10:g.6750980C>G , CM000682.1:g.6750980C>G GRCh37
NC_000020.9:g.6698980C>G NCBI36
NG_023233.1:g.7236C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378827.5:c.207C>G MANE Select ENSP00000368104.3:p.Pro69=
ENST00000378827.4:c.207C>G ENSP00000368104.3:p.Pro69=
NM_001200.2:c.207C>G NP_001191.1:p.Pro69=
XM_011529323.1:c.-123+1458C>G XP_011527625.1:n.-123+1458C>G
NM_001200.3:c.207C>G NP_001191.1:p.Pro69=
NM_001200.4:c.207C>G MANE Select NP_001191.1:p.Pro69=
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