Canonical Allele Identifier: CA479450190
Gene: COL2A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.48367980T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47974197T>A , CM000674.2:g.47974197T>A GRCh38
NC_000012.11:g.48367980T>A , CM000674.1:g.48367980T>A GRCh37
NC_000012.10:g.46654247T>A NCBI36
NG_008072.1:g.35306A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000337299.7:c.4002A>T ENSP00000338213.6:p.Ala1334=
ENST00000380518.8:c.4209A>T MANE Select ENSP00000369889.3:p.Ala1403=
ENST00000337299.6:c.4002A>T ENSP00000338213.6:p.Ala1334=
ENST00000380518.7:c.4209A>T ENSP00000369889.3:p.Ala1403=
ENST00000493991.5:n.3295A>T
NM_001844.4:c.4209A>T NP_001835.3:p.Ala1403=
NM_033150.2:c.4002A>T NP_149162.2:p.Ala1334=
XM_006719242.2:c.4353A>T XP_006719305.2:p.Ala1451=
XM_011537928.1:c.4353A>T XP_011536230.1:p.Ala1451=
XM_011537929.1:c.4353A>T XP_011536231.1:p.Ala1451=
XM_011537930.1:c.4353A>T XP_011536232.1:p.Ala1451=
XM_011537931.1:c.4353A>T XP_011536233.1:p.Ala1451=
XM_011537932.1:c.4353A>T XP_011536234.1:p.Ala1451=
XM_011537933.1:c.4353A>T XP_011536235.1:p.Ala1451=
XM_011537934.1:c.4350A>T XP_011536236.1:p.Ala1450=
XM_011537935.1:c.3297A>T XP_011536237.1:p.Ala1099=
XM_017018828.1:c.4353A>T XP_016874317.1:p.Ala1451=
XM_017018829.1:c.4350A>T XP_016874318.1:p.Ala1450=
XM_017018830.1:c.4143A>T XP_016874319.1:p.Ala1381=
XM_017018831.2:c.3663A>T XP_016874320.1:p.Ala1221=
NM_001844.5:c.4209A>T MANE Select NP_001835.3:p.Ala1403=
NM_033150.3:c.4002A>T NP_149162.2:p.Ala1334=