Canonical Allele Identifier: CA408258660
Gene: BMP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.6759131T>A (hg19) chr20:g.6778484T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.6778484T>A , CM000682.2:g.6778484T>A GRCh38
NC_000020.10:g.6759131T>A , CM000682.1:g.6759131T>A GRCh37
NC_000020.9:g.6707131T>A NCBI36
NG_023233.1:g.15387T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378827.5:c.586T>A MANE Select ENSP00000368104.3:p.Leu196Met
ENST00000378827.4:c.586T>A ENSP00000368104.3:p.Leu196Met
NM_001200.2:c.586T>A NP_001191.1:p.Leu196Met
XM_011529323.1:c.118T>A XP_011527625.1:p.Leu40Met
NM_001200.3:c.586T>A NP_001191.1:p.Leu196Met
NM_001200.4:c.586T>A MANE Select NP_001191.1:p.Leu196Met
Search 100 bp 5'
Search 100 bp 3'