Canonical Allele Identifier: CA408260194

Gene: BMP2

Linked Data

• ClinVar Variation Id: 492934
• ClinVar RCV Id: RCV000584741 ; RCV001800810
• dbSNP Id: rs1555785715
• gnomAD v4: 20-6770205-G-T
• MyVariant Identifiers: chr20:g.6750852G>T (hg19) ; chr20:g.6770205G>T (hg38)
• PubMed: PMID:29198724

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.6770205G>T , CM000682.2:g.6770205G>T	GRCh38
NC_000020.10:g.6750852G>T , CM000682.1:g.6750852G>T	GRCh37
NC_000020.9:g.6698852G>T	NCBI36
NG_023233.1:g.7108G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378827.5:c.79G>T MANE Select	ENSP00000368104.3:p.Glu27Ter
ENST00000378827.4:c.79G>T	ENSP00000368104.3:p.Glu27Ter
NM_001200.2:c.79G>T	NP_001191.1:p.Glu27Ter
XM_011529323.1:c.-123+1330G>T	XP_011527625.1:n.-123+1330G>T
NM_001200.3:c.79G>T	NP_001191.1:p.Glu27Ter
NM_001200.4:c.79G>T MANE Select	NP_001191.1:p.Glu27Ter