Canonical Allele Identifier: CA509817749
Gene: BMP2 HGNC NCBI

Linked Data

gnomAD v4: 20-6770297-G-A
MyVariant Identifiers: chr20:g.6750944G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.6770297G>A , CM000682.2:g.6770297G>A GRCh38
NC_000020.10:g.6750944G>A , CM000682.1:g.6750944G>A GRCh37
NC_000020.9:g.6698944G>A NCBI36
NG_023233.1:g.7200G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378827.5:c.171G>A MANE Select ENSP00000368104.3:p.Leu57=
ENST00000378827.4:c.171G>A ENSP00000368104.3:p.Leu57=
NM_001200.2:c.171G>A NP_001191.1:p.Leu57=
XM_011529323.1:c.-123+1422G>A XP_011527625.1:n.-123+1422G>A
NM_001200.3:c.171G>A NP_001191.1:p.Leu57=
NM_001200.4:c.171G>A MANE Select NP_001191.1:p.Leu57=