Canonical Allele Identifier: CA408258771
Gene: BMP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.6778530C>T , CM000682.2:g.6778530C>T GRCh38
NC_000020.10:g.6759177C>T , CM000682.1:g.6759177C>T GRCh37
NC_000020.9:g.6707177C>T NCBI36
NG_023233.1:g.15433C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000378827.5:c.632C>T MANE Select ENSP00000368104.3:p.Pro211Leu
ENST00000378827.4:c.632C>T ENSP00000368104.3:p.Pro211Leu
NM_001200.2:c.632C>T NP_001191.1:p.Pro211Leu
XM_011529323.1:c.164C>T XP_011527625.1:p.Pro55Leu
NM_001200.3:c.632C>T NP_001191.1:p.Pro211Leu
NM_001200.4:c.632C>T MANE Select NP_001191.1:p.Pro211Leu