Canonical Allele Identifier: CA408258669

Gene: BMP2

Linked Data

• dbSNP Id: rs180897623
• MyVariant Identifiers: chr20:g.6759134G>T (hg19) ; chr20:g.6778487G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.6778487G>T , CM000682.2:g.6778487G>T	GRCh38
NC_000020.10:g.6759134G>T , CM000682.1:g.6759134G>T	GRCh37
NC_000020.9:g.6707134G>T	NCBI36
NG_023233.1:g.15390G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000378827.5:c.589G>T MANE Select	ENSP00000368104.3:p.Val197Leu
ENST00000378827.4:c.589G>T	ENSP00000368104.3:p.Val197Leu
NM_001200.2:c.589G>T	NP_001191.1:p.Val197Leu
XM_011529323.1:c.121G>T	XP_011527625.1:p.Val41Leu
NM_001200.3:c.589G>T	NP_001191.1:p.Val197Leu
NM_001200.4:c.589G>T MANE Select	NP_001191.1:p.Val197Leu