Canonical Allele Identifier: CA384540448

Gene: COL2A1

Linked Data

• MyVariant Identifiers: chr12:g.48371194G>A (hg19) ; chr12:g.47977411G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47977411G>A , CM000674.2:g.47977411G>A	GRCh38
NC_000012.11:g.48371194G>A , CM000674.1:g.48371194G>A	GRCh37
NC_000012.10:g.46657461G>A	NCBI36
NG_008072.1:g.32092C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.2975C>T	ENSP00000338213.6:p.Thr992Ile
ENST00000380518.8:c.3182C>T MANE Select	ENSP00000369889.3:p.Thr1061Ile
ENST00000337299.6:c.2975C>T	ENSP00000338213.6:p.Thr992Ile
ENST00000380518.7:c.3182C>T	ENSP00000369889.3:p.Thr1061Ile
ENST00000493991.5:n.2268C>T
ENST00000546974.1:n.35C>T
NM_001844.4:c.3182C>T	NP_001835.3:p.Thr1061Ile
NM_033150.2:c.2975C>T	NP_149162.2:p.Thr992Ile
XM_006719242.2:c.3326C>T	XP_006719305.2:p.Thr1109Ile
XM_011537928.1:c.3326C>T	XP_011536230.1:p.Thr1109Ile
XM_011537929.1:c.3326C>T	XP_011536231.1:p.Thr1109Ile
XM_011537930.1:c.3326C>T	XP_011536232.1:p.Thr1109Ile
XM_011537931.1:c.3326C>T	XP_011536233.1:p.Thr1109Ile
XM_011537932.1:c.3326C>T	XP_011536234.1:p.Thr1109Ile
XM_011537933.1:c.3326C>T	XP_011536235.1:p.Thr1109Ile
XM_011537934.1:c.3323C>T	XP_011536236.1:p.Thr1108Ile
XM_011537935.1:c.2270C>T	XP_011536237.1:p.Thr757Ile
XM_017018828.1:c.3326C>T	XP_016874317.1:p.Thr1109Ile
XM_017018829.1:c.3323C>T	XP_016874318.1:p.Thr1108Ile
XM_017018830.1:c.3116C>T	XP_016874319.1:p.Thr1039Ile
XM_017018831.2:c.2636C>T	XP_016874320.1:p.Thr879Ile
NM_001844.5:c.3182C>T MANE Select	NP_001835.3:p.Thr1061Ile
NM_033150.3:c.2975C>T	NP_149162.2:p.Thr992Ile