Canonical Allele Identifier: CA408258472
Gene: BMP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.6778398T>G , CM000682.2:g.6778398T>G GRCh38
NC_000020.10:g.6759045T>G , CM000682.1:g.6759045T>G GRCh37
NC_000020.9:g.6707045T>G NCBI36
NG_023233.1:g.15301T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378827.5:c.500T>G MANE Select ENSP00000368104.3:p.Phe167Cys
ENST00000378827.4:c.500T>G ENSP00000368104.3:p.Phe167Cys
NM_001200.2:c.500T>G NP_001191.1:p.Phe167Cys
XM_011529323.1:c.32T>G XP_011527625.1:p.Phe11Cys
NM_001200.3:c.500T>G NP_001191.1:p.Phe167Cys
NM_001200.4:c.500T>G MANE Select NP_001191.1:p.Phe167Cys