Canonical Allele Identifier: CA509687848
Gene: BMP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.6750794T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.6770147T>C , CM000682.2:g.6770147T>C GRCh38
NC_000020.10:g.6750794T>C , CM000682.1:g.6750794T>C GRCh37
NC_000020.9:g.6698794T>C NCBI36
NG_023233.1:g.7050T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378827.5:c.21T>C MANE Select ENSP00000368104.3:p.Cys7=
ENST00000378827.4:c.21T>C ENSP00000368104.3:p.Cys7=
NM_001200.2:c.21T>C NP_001191.1:p.Cys7=
XM_011529323.1:c.-123+1272T>C XP_011527625.1:n.-123+1272T>C
NM_001200.3:c.21T>C NP_001191.1:p.Cys7=
NM_001200.4:c.21T>C MANE Select NP_001191.1:p.Cys7=