Canonical Allele Identifier: CA10603262

Gene: COL2A1

Linked Data

• ClinVar Variation Id: 280522
• ClinVar RCV Id: RCV000335506 ; RCV002248504
• dbSNP Id: rs886041713
• gnomAD v4: 12-47980562-C-A
• MyVariant Identifiers: chr12:g.48374345C>A (hg19) ; chr12:g.47980562C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47980562C>A , CM000674.2:g.47980562C>A	GRCh38
NC_000012.11:g.48374345C>A , CM000674.1:g.48374345C>A	GRCh37
NC_000012.10:g.46660612C>A	NCBI36
NG_008072.1:g.28941G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.2410G>T	ENSP00000338213.6:p.Gly804Trp
ENST00000380518.8:c.2617G>T MANE Select	ENSP00000369889.3:p.Gly873Trp
ENST00000337299.6:c.2410G>T	ENSP00000338213.6:p.Gly804Trp
ENST00000380518.7:c.2617G>T	ENSP00000369889.3:p.Gly873Trp
ENST00000493991.5:n.1703G>T
NM_001844.4:c.2617G>T	NP_001835.3:p.Gly873Trp
NM_033150.2:c.2410G>T	NP_149162.2:p.Gly804Trp
XM_006719242.2:c.2761G>T	XP_006719305.2:p.Gly921Trp
XM_011537928.1:c.2761G>T	XP_011536230.1:p.Gly921Trp
XM_011537929.1:c.2761G>T	XP_011536231.1:p.Gly921Trp
XM_011537930.1:c.2761G>T	XP_011536232.1:p.Gly921Trp
XM_011537931.1:c.2761G>T	XP_011536233.1:p.Gly921Trp
XM_011537932.1:c.2761G>T	XP_011536234.1:p.Gly921Trp
XM_011537933.1:c.2761G>T	XP_011536235.1:p.Gly921Trp
XM_011537934.1:c.2758G>T	XP_011536236.1:p.Gly920Trp
XM_011537935.1:c.1705G>T	XP_011536237.1:p.Gly569Trp
XM_017018828.1:c.2761G>T	XP_016874317.1:p.Gly921Trp
XM_017018829.1:c.2758G>T	XP_016874318.1:p.Gly920Trp
XM_017018830.1:c.2551G>T	XP_016874319.1:p.Gly851Trp
XM_017018831.2:c.2071G>T	XP_016874320.1:p.Gly691Trp
NM_001844.5:c.2617G>T MANE Select	NP_001835.3:p.Gly873Trp
NM_033150.3:c.2410G>T	NP_149162.2:p.Gly804Trp