Canonical Allele Identifier: CA384521868
Community Standard Title: NM_001844.5(COL2A1):c.917G>T (p.Gly306Val)
Gene: COL2A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47993816C>A , CM000674.2:g.47993816C>A GRCh38
NC_000012.11:g.48387599C>A , CM000674.1:g.48387599C>A GRCh37
NC_000012.10:g.46673866C>A NCBI36
NG_008072.1:g.15687G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001844.5:c.917G>T MANE Select NP_001835.3:p.Gly306Val
ENST00000380518.8:c.917G>T MANE Select ENSP00000369889.3:p.Gly306Val
NM_001844.4:c.917G>T NP_001835.3:p.Gly306Val
NM_033150.2:c.710G>T NP_149162.2:p.Gly237Val
NM_033150.3:c.710G>T NP_149162.2:p.Gly237Val
ENST00000337299.6:c.710G>T ENSP00000338213.6:p.Gly237Val
ENST00000337299.7:c.710G>T ENSP00000338213.6:p.Gly237Val
ENST00000380518.7:c.917G>T ENSP00000369889.3:p.Gly306Val
XM_006719242.2:c.1061G>T XP_006719305.2:p.Gly354Val
XM_011537928.1:c.1061G>T XP_011536230.1:p.Gly354Val
XM_011537929.1:c.1061G>T XP_011536231.1:p.Gly354Val
XM_011537930.1:c.1061G>T XP_011536232.1:p.Gly354Val
XM_011537931.1:c.1061G>T XP_011536233.1:p.Gly354Val
XM_011537932.1:c.1061G>T XP_011536234.1:p.Gly354Val
XM_011537933.1:c.1061G>T XP_011536235.1:p.Gly354Val
XM_011537934.1:c.1058G>T XP_011536236.1:p.Gly353Val
XM_017018828.1:c.1061G>T XP_016874317.1:p.Gly354Val
XM_017018829.1:c.1058G>T XP_016874318.1:p.Gly353Val
XM_017018830.1:c.851G>T XP_016874319.1:p.Gly284Val
XM_017018831.2:c.371G>T XP_016874320.1:p.Gly124Val