Canonical Allele Identifier: CA479451436

Gene: COL2A1

Linked Data

• ClinVar Variation Id: 1113473
• ClinVar RCV Id: RCV001440867
• dbSNP Id: rs1245257033
• gnomAD v2: 12-48369755-G-A
• gnomAD v3: 12-47975972-G-A
• gnomAD v4: 12-47975972-G-A
• MyVariant Identifiers: chr12:g.48369755G>A (hg19) ; chr12:g.47975972G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47975972G>A , CM000674.2:g.47975972G>A	GRCh38
NC_000012.11:g.48369755G>A , CM000674.1:g.48369755G>A	GRCh37
NC_000012.10:g.46656022G>A	NCBI36
NG_008072.1:g.33531C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.3381C>T	ENSP00000338213.6:p.Thr1127=
ENST00000380518.8:c.3588C>T MANE Select	ENSP00000369889.3:p.Thr1196=
ENST00000337299.6:c.3381C>T	ENSP00000338213.6:p.Thr1127=
ENST00000380518.7:c.3588C>T	ENSP00000369889.3:p.Thr1196=
ENST00000493991.5:n.2674C>T
ENST00000546974.1:n.441C>T
NM_001844.4:c.3588C>T	NP_001835.3:p.Thr1196=
NM_033150.2:c.3381C>T	NP_149162.2:p.Thr1127=
XM_006719242.2:c.3732C>T	XP_006719305.2:p.Thr1244=
XM_011537928.1:c.3732C>T	XP_011536230.1:p.Thr1244=
XM_011537929.1:c.3732C>T	XP_011536231.1:p.Thr1244=
XM_011537930.1:c.3732C>T	XP_011536232.1:p.Thr1244=
XM_011537931.1:c.3732C>T	XP_011536233.1:p.Thr1244=
XM_011537932.1:c.3732C>T	XP_011536234.1:p.Thr1244=
XM_011537933.1:c.3732C>T	XP_011536235.1:p.Thr1244=
XM_011537934.1:c.3729C>T	XP_011536236.1:p.Thr1243=
XM_011537935.1:c.2676C>T	XP_011536237.1:p.Thr892=
XM_017018828.1:c.3732C>T	XP_016874317.1:p.Thr1244=
XM_017018829.1:c.3729C>T	XP_016874318.1:p.Thr1243=
XM_017018830.1:c.3522C>T	XP_016874319.1:p.Thr1174=
XM_017018831.2:c.3042C>T	XP_016874320.1:p.Thr1014=
NM_001844.5:c.3588C>T MANE Select	NP_001835.3:p.Thr1196=
NM_033150.3:c.3381C>T	NP_149162.2:p.Thr1127=