Canonical Allele Identifier: CA9758708
Gene: BMP2 HGNC NCBI

Linked Data

dbSNP Id: rs771239326
ExAC: 20:6759136 G / A
gnomAD v2: 20-6759136-G-A
MyVariant Identifiers: chr20:g.6759136G>A (hg19) chr20:g.6778489G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.6778489G>A , CM000682.2:g.6778489G>A GRCh38
NC_000020.10:g.6759136G>A , CM000682.1:g.6759136G>A GRCh37
NC_000020.9:g.6707136G>A NCBI36
NG_023233.1:g.15392G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000378827.5:c.591G>A MANE Select ENSP00000368104.3:p.Val197=
ENST00000378827.4:c.591G>A ENSP00000368104.3:p.Val197=
NM_001200.2:c.591G>A NP_001191.1:p.Val197=
XM_011529323.1:c.123G>A XP_011527625.1:p.Val41=
NM_001200.3:c.591G>A NP_001191.1:p.Val197=
NM_001200.4:c.591G>A MANE Select NP_001191.1:p.Val197=
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