Canonical Allele Identifier: CA201588

Gene: BMP2

Linked Data

• ClinVar Variation Id: 195136
• ClinVar RCV Id: RCV000175686 ; RCV001512887 ; RCV001554239
• dbSNP Id: rs1049007
• ExAC: 20:6751034 A / G
• gnomAD v2: 20-6751034-A-G
• gnomAD v3: 20-6770387-A-G
• gnomAD v4: 20-6770387-A-G
• MyVariant Identifiers: chr20:g.6751034A>G (hg19) ; chr20:g.6770387A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.6770387A>G , CM000682.2:g.6770387A>G	GRCh38
NC_000020.10:g.6751034A>G , CM000682.1:g.6751034A>G	GRCh37
NC_000020.9:g.6699034A>G	NCBI36
NG_023233.1:g.7290A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000378827.5:c.261A>G MANE Select	ENSP00000368104.3:p.Ser87=
ENST00000378827.4:c.261A>G	ENSP00000368104.3:p.Ser87=
NM_001200.2:c.261A>G	NP_001191.1:p.Ser87=
XM_011529323.1:c.-123+1512A>G	XP_011527625.1:n.-123+1512A>G
NM_001200.3:c.261A>G	NP_001191.1:p.Ser87=
NM_001200.4:c.261A>G MANE Select	NP_001191.1:p.Ser87=