Canonical Allele Identifier: CA408260377

Gene: BMP2

Linked Data

• MyVariant Identifiers: chr20:g.6750942C>G (hg19) ; chr20:g.6770295C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.6770295C>G , CM000682.2:g.6770295C>G	GRCh38
NC_000020.10:g.6750942C>G , CM000682.1:g.6750942C>G	GRCh37
NC_000020.9:g.6698942C>G	NCBI36
NG_023233.1:g.7198C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000378827.5:c.169C>G MANE Select	ENSP00000368104.3:p.Leu57Val
ENST00000378827.4:c.169C>G	ENSP00000368104.3:p.Leu57Val
NM_001200.2:c.169C>G	NP_001191.1:p.Leu57Val
XM_011529323.1:c.-123+1420C>G	XP_011527625.1:n.-123+1420C>G
NM_001200.3:c.169C>G	NP_001191.1:p.Leu57Val
NM_001200.4:c.169C>G MANE Select	NP_001191.1:p.Leu57Val