Canonical Allele Identifier: CA509817678
Gene: BMP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.6759064T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.6778417T>A , CM000682.2:g.6778417T>A GRCh38
NC_000020.10:g.6759064T>A , CM000682.1:g.6759064T>A GRCh37
NC_000020.9:g.6707064T>A NCBI36
NG_023233.1:g.15320T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378827.5:c.519T>A MANE Select ENSP00000368104.3:p.Ile173=
ENST00000378827.4:c.519T>A ENSP00000368104.3:p.Ile173=
NM_001200.2:c.519T>A NP_001191.1:p.Ile173=
XM_011529323.1:c.51T>A XP_011527625.1:p.Ile17=
NM_001200.3:c.519T>A NP_001191.1:p.Ile173=
NM_001200.4:c.519T>A MANE Select NP_001191.1:p.Ile173=