Canonical Allele Identifier: CA9758718
Gene: BMP2 HGNC NCBI

Linked Data

dbSNP Id: rs377749107
ExAC: 20:6759179 G / C
gnomAD v2: 20-6759179-G-C
gnomAD v4: 20-6778532-G-C
MyVariant Identifiers: chr20:g.6759179G>C (hg19) chr20:g.6778532G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.6778532G>C , CM000682.2:g.6778532G>C GRCh38
NC_000020.10:g.6759179G>C , CM000682.1:g.6759179G>C GRCh37
NC_000020.9:g.6707179G>C NCBI36
NG_023233.1:g.15435G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378827.5:c.634G>C MANE Select ENSP00000368104.3:p.Ala212Pro
ENST00000378827.4:c.634G>C ENSP00000368104.3:p.Ala212Pro
NM_001200.2:c.634G>C NP_001191.1:p.Ala212Pro
XM_011529323.1:c.166G>C XP_011527625.1:p.Ala56Pro
NM_001200.3:c.634G>C NP_001191.1:p.Ala212Pro
NM_001200.4:c.634G>C MANE Select NP_001191.1:p.Ala212Pro
Search 100 bp 5'
Search 100 bp 3'