Canonical Allele Identifier: CA408260489

Gene: BMP2

Linked Data

• gnomAD v4: 20-6770350-T-C
• MyVariant Identifiers: chr20:g.6750997T>C (hg19) ; chr20:g.6770350T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.6770350T>C , CM000682.2:g.6770350T>C	GRCh38
NC_000020.10:g.6750997T>C , CM000682.1:g.6750997T>C	GRCh37
NC_000020.9:g.6698997T>C	NCBI36
NG_023233.1:g.7253T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378827.5:c.224T>C MANE Select	ENSP00000368104.3:p.Val75Ala
ENST00000378827.4:c.224T>C	ENSP00000368104.3:p.Val75Ala
NM_001200.2:c.224T>C	NP_001191.1:p.Val75Ala
XM_011529323.1:c.-123+1475T>C	XP_011527625.1:n.-123+1475T>C
NM_001200.3:c.224T>C	NP_001191.1:p.Val75Ala
NM_001200.4:c.224T>C MANE Select	NP_001191.1:p.Val75Ala