Canonical Allele Identifier: CA479459285

Gene: COL2A1

Linked Data

• ClinVar Variation Id: 2740764
• ClinVar RCV Id: RCV003575862
• gnomAD v4: 12-47981800-G-A
• MyVariant Identifiers: chr12:g.48375583G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47981800G>A , CM000674.2:g.47981800G>A	GRCh38
NC_000012.11:g.48375583G>A , CM000674.1:g.48375583G>A	GRCh37
NC_000012.10:g.46661850G>A	NCBI36
NG_008072.1:g.27703C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.2178C>T	ENSP00000338213.6:p.Gly726=
ENST00000380518.8:c.2385C>T MANE Select	ENSP00000369889.3:p.Gly795=
ENST00000337299.6:c.2178C>T	ENSP00000338213.6:p.Gly726=
ENST00000380518.7:c.2385C>T	ENSP00000369889.3:p.Gly795=
ENST00000483376.1:n.563C>T
ENST00000493991.5:n.1471C>T
NM_001844.4:c.2385C>T	NP_001835.3:p.Gly795=
NM_033150.2:c.2178C>T	NP_149162.2:p.Gly726=
XM_006719242.2:c.2529C>T	XP_006719305.2:p.Gly843=
XM_011537928.1:c.2529C>T	XP_011536230.1:p.Gly843=
XM_011537929.1:c.2529C>T	XP_011536231.1:p.Gly843=
XM_011537930.1:c.2529C>T	XP_011536232.1:p.Gly843=
XM_011537931.1:c.2529C>T	XP_011536233.1:p.Gly843=
XM_011537932.1:c.2529C>T	XP_011536234.1:p.Gly843=
XM_011537933.1:c.2529C>T	XP_011536235.1:p.Gly843=
XM_011537934.1:c.2526C>T	XP_011536236.1:p.Gly842=
XM_011537935.1:c.1473C>T	XP_011536237.1:p.Gly491=
XR_944910.1:n.208+374G>A
XM_017018828.1:c.2529C>T	XP_016874317.1:p.Gly843=
XM_017018829.1:c.2526C>T	XP_016874318.1:p.Gly842=
XM_017018830.1:c.2319C>T	XP_016874319.1:p.Gly773=
XM_017018831.2:c.1839C>T	XP_016874320.1:p.Gly613=
NM_001844.5:c.2385C>T MANE Select	NP_001835.3:p.Gly795=
NM_033150.3:c.2178C>T	NP_149162.2:p.Gly726=