Canonical Allele Identifier: CA408260455

Gene: BMP2

Linked Data

• MyVariant Identifiers: chr20:g.6750982G>T (hg19) ; chr20:g.6770335G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.6770335G>T , CM000682.2:g.6770335G>T	GRCh38
NC_000020.10:g.6750982G>T , CM000682.1:g.6750982G>T	GRCh37
NC_000020.9:g.6698982G>T	NCBI36
NG_023233.1:g.7238G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378827.5:c.209G>T MANE Select	ENSP00000368104.3:p.Ser70Ile
ENST00000378827.4:c.209G>T	ENSP00000368104.3:p.Ser70Ile
NM_001200.2:c.209G>T	NP_001191.1:p.Ser70Ile
XM_011529323.1:c.-123+1460G>T	XP_011527625.1:n.-123+1460G>T
NM_001200.3:c.209G>T	NP_001191.1:p.Ser70Ile
NM_001200.4:c.209G>T MANE Select	NP_001191.1:p.Ser70Ile