Canonical Allele Identifier: CA509817733
Gene: BMP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.6750936T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.6770289T>C , CM000682.2:g.6770289T>C GRCh38
NC_000020.10:g.6750936T>C , CM000682.1:g.6750936T>C GRCh37
NC_000020.9:g.6698936T>C NCBI36
NG_023233.1:g.7192T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000378827.5:c.163T>C MANE Select ENSP00000368104.3:p.Leu55=
ENST00000378827.4:c.163T>C ENSP00000368104.3:p.Leu55=
NM_001200.2:c.163T>C NP_001191.1:p.Leu55=
XM_011529323.1:c.-123+1414T>C XP_011527625.1:n.-123+1414T>C
NM_001200.3:c.163T>C NP_001191.1:p.Leu55=
NM_001200.4:c.163T>C MANE Select NP_001191.1:p.Leu55=