Canonical Allele Identifier: CA384521859
Community Standard Title: NM_001844.5(COL2A1):c.923A>T (p.Lys308Met)
Gene: COL2A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47993810T>A , CM000674.2:g.47993810T>A GRCh38
NC_000012.11:g.48387593T>A , CM000674.1:g.48387593T>A GRCh37
NC_000012.10:g.46673860T>A NCBI36
NG_008072.1:g.15693A>T

Transcript Alleles

HGVS Amino-acid Change
NM_001844.5:c.923A>T MANE Select NP_001835.3:p.Lys308Met
ENST00000380518.8:c.923A>T MANE Select ENSP00000369889.3:p.Lys308Met
NM_001844.4:c.923A>T NP_001835.3:p.Lys308Met
NM_033150.2:c.716A>T NP_149162.2:p.Lys239Met
NM_033150.3:c.716A>T NP_149162.2:p.Lys239Met
ENST00000337299.6:c.716A>T ENSP00000338213.6:p.Lys239Met
ENST00000337299.7:c.716A>T ENSP00000338213.6:p.Lys239Met
ENST00000380518.7:c.923A>T ENSP00000369889.3:p.Lys308Met
XM_006719242.2:c.1067A>T XP_006719305.2:p.Lys356Met
XM_011537928.1:c.1067A>T XP_011536230.1:p.Lys356Met
XM_011537929.1:c.1067A>T XP_011536231.1:p.Lys356Met
XM_011537930.1:c.1067A>T XP_011536232.1:p.Lys356Met
XM_011537931.1:c.1067A>T XP_011536233.1:p.Lys356Met
XM_011537932.1:c.1067A>T XP_011536234.1:p.Lys356Met
XM_011537933.1:c.1067A>T XP_011536235.1:p.Lys356Met
XM_011537934.1:c.1064A>T XP_011536236.1:p.Lys355Met
XM_017018828.1:c.1067A>T XP_016874317.1:p.Lys356Met
XM_017018829.1:c.1064A>T XP_016874318.1:p.Lys355Met
XM_017018830.1:c.857A>T XP_016874319.1:p.Lys286Met
XM_017018831.2:c.377A>T XP_016874320.1:p.Lys126Met