Canonical Allele Identifier: CA408258766
Gene: BMP2 HGNC NCBI

Linked Data

gnomAD v4: 20-6778529-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.6778529C>G , CM000682.2:g.6778529C>G GRCh38
NC_000020.10:g.6759176C>G , CM000682.1:g.6759176C>G GRCh37
NC_000020.9:g.6707176C>G NCBI36
NG_023233.1:g.15432C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378827.5:c.631C>G MANE Select ENSP00000368104.3:p.Pro211Ala
ENST00000378827.4:c.631C>G ENSP00000368104.3:p.Pro211Ala
NM_001200.2:c.631C>G NP_001191.1:p.Pro211Ala
XM_011529323.1:c.163C>G XP_011527625.1:p.Pro55Ala
NM_001200.3:c.631C>G NP_001191.1:p.Pro211Ala
NM_001200.4:c.631C>G MANE Select NP_001191.1:p.Pro211Ala