Canonical Allele Identifier: CA509817755
Gene: BMP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.6750947C>G (hg19)

Genomic Alleles

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

Transcript Alleles

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