Canonical Allele Identifier: CA6536118

Gene: COL2A1

Linked Data

• ClinVar Variation Id: 308937
• ClinVar RCV Id: RCV000285542 ; RCV000382203 ; RCV000680498 ; RCV000611318 ; RCV000919210
• dbSNP Id: rs769941617
• ExAC: 12:48398010 G / C
• gnomAD v2: 12-48398010-G-C
• gnomAD v3: 12-48004227-G-C
• gnomAD v4: 12-48004227-G-C
• MyVariant Identifiers: chr12:g.48398010G>C (hg19) ; chr12:g.48004227G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.48004227G>C , CM000674.2:g.48004227G>C	GRCh38
NC_000012.11:g.48398010G>C , CM000674.1:g.48398010G>C	GRCh37
NC_000012.10:g.46684277G>C	NCBI36
NG_008072.1:g.5276C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.85+10C>G	ENSP00000338213.6:n.85+10C>G
ENST00000380518.8:c.85+10C>G MANE Select	ENSP00000369889.3:n.85+10C>G
ENST00000490609.2:n.318+10C>G
ENST00000337299.6:c.85+10C>G	ENSP00000338213.6:n.85+10C>G
ENST00000380518.7:c.85+10C>G	ENSP00000369889.3:n.85+10C>G
ENST00000465743.2:n.126+10C>G
ENST00000474996.6:n.213+10C>G
ENST00000490609.1:n.250+10C>G
NM_001844.4:c.85+10C>G	NP_001835.3:n.85+10C>G
NM_033150.2:c.85+10C>G	NP_149162.2:n.85+10C>G
XM_006719242.2:c.226+10C>G	XP_006719305.2:n.226+10C>G
XM_011537928.1:c.226+10C>G	XP_011536230.1:n.226+10C>G
XM_011537929.1:c.226+10C>G	XP_011536231.1:n.226+10C>G
XM_011537930.1:c.226+10C>G	XP_011536232.1:n.226+10C>G
XM_011537931.1:c.226+10C>G	XP_011536233.1:n.226+10C>G
XM_011537932.1:c.226+10C>G	XP_011536234.1:n.226+10C>G
XM_011537933.1:c.226+10C>G	XP_011536235.1:n.226+10C>G
XM_011537934.1:c.226+10C>G	XP_011536236.1:n.226+10C>G
XM_017018828.1:c.226+10C>G	XP_016874317.1:n.226+10C>G
XM_017018829.1:c.226+10C>G	XP_016874318.1:n.226+10C>G
XM_017018830.1:c.226+10C>G	XP_016874319.1:n.226+10C>G
NM_001844.5:c.85+10C>G MANE Select	NP_001835.3:n.85+10C>G
NM_033150.3:c.85+10C>G	NP_149162.2:n.85+10C>G