Canonical Allele Identifier: CA6535425

Gene: COL2A1

Linked Data

• ClinVar Variation Id: 308923
• ClinVar RCV Id: RCV000266835 ; RCV000379960 ; RCV004544529
• dbSNP Id: rs371857655
• ExAC: 12:48379502 G / T
• gnomAD v2: 12-48379502-G-T
• gnomAD v3: 12-47985719-G-T
• gnomAD v4: 12-47985719-G-T
• MyVariant Identifiers: chr12:g.48379502G>T (hg19) ; chr12:g.47985719G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47985719G>T , CM000674.2:g.47985719G>T	GRCh38
NC_000012.11:g.48379502G>T , CM000674.1:g.48379502G>T	GRCh37
NC_000012.10:g.46665769G>T	NCBI36
NG_008072.1:g.23784C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.1473+9C>A	ENSP00000338213.6:n.1473+9C>A
ENST00000380518.8:c.1680+9C>A MANE Select	ENSP00000369889.3:n.1680+9C>A
ENST00000337299.6:c.1473+9C>A	ENSP00000338213.6:n.1473+9C>A
ENST00000380518.7:c.1680+9C>A	ENSP00000369889.3:n.1680+9C>A
ENST00000493991.5:n.604+9C>A
NM_001844.4:c.1680+9C>A	NP_001835.3:n.1680+9C>A
NM_033150.2:c.1473+9C>A	NP_149162.2:n.1473+9C>A
XM_006719242.2:c.1824+9C>A	XP_006719305.2:n.1824+9C>A
XM_011537928.1:c.1824+9C>A	XP_011536230.1:n.1824+9C>A
XM_011537929.1:c.1824+9C>A	XP_011536231.1:n.1824+9C>A
XM_011537930.1:c.1824+9C>A	XP_011536232.1:n.1824+9C>A
XM_011537931.1:c.1824+9C>A	XP_011536233.1:n.1824+9C>A
XM_011537932.1:c.1824+9C>A	XP_011536234.1:n.1824+9C>A
XM_011537933.1:c.1824+9C>A	XP_011536235.1:n.1824+9C>A
XM_011537934.1:c.1821+9C>A	XP_011536236.1:n.1821+9C>A
XM_011537935.1:c.768+9C>A	XP_011536237.1:n.768+9C>A
XM_017018828.1:c.1824+9C>A	XP_016874317.1:n.1824+9C>A
XM_017018829.1:c.1821+9C>A	XP_016874318.1:n.1821+9C>A
XM_017018830.1:c.1614+9C>A	XP_016874319.1:n.1614+9C>A
XM_017018831.2:c.1134+9C>A	XP_016874320.1:n.1134+9C>A
NM_001844.5:c.1680+9C>A MANE Select	NP_001835.3:n.1680+9C>A
NM_033150.3:c.1473+9C>A	NP_149162.2:n.1473+9C>A