Canonical Allele Identifier: CA509817756

Gene: BMP2

Linked Data

• gnomAD v4: 20-6770300-C-T
• MyVariant Identifiers: chr20:g.6750947C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.6770300C>T , CM000682.2:g.6770300C>T	GRCh38
NC_000020.10:g.6750947C>T , CM000682.1:g.6750947C>T	GRCh37
NC_000020.9:g.6698947C>T	NCBI36
NG_023233.1:g.7203C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000378827.5:c.174C>T MANE Select	ENSP00000368104.3:p.Leu58=
ENST00000378827.4:c.174C>T	ENSP00000368104.3:p.Leu58=
NM_001200.2:c.174C>T	NP_001191.1:p.Leu58=
XM_011529323.1:c.-123+1425C>T	XP_011527625.1:n.-123+1425C>T
NM_001200.3:c.174C>T	NP_001191.1:p.Leu58=
NM_001200.4:c.174C>T MANE Select	NP_001191.1:p.Leu58=