Canonical Allele Identifier: CA689444232

Gene: COL2A1

Linked Data

• dbSNP Id: rs1367981982
• gnomAD v4: 12-47985887-C-A
• MyVariant Identifiers: chr12:g.48379670C>A (hg19) ; chr12:g.47985887C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47985887C>A , CM000674.2:g.47985887C>A	GRCh38
NC_000012.11:g.48379670C>A , CM000674.1:g.48379670C>A	GRCh37
NC_000012.10:g.46665937C>A	NCBI36
NG_008072.1:g.23616G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.1374+25G>T	ENSP00000338213.6:n.1374+25G>T
ENST00000380518.8:c.1581+25G>T MANE Select	ENSP00000369889.3:n.1581+25G>T
ENST00000337299.6:c.1374+25G>T	ENSP00000338213.6:n.1374+25G>T
ENST00000380518.7:c.1581+25G>T	ENSP00000369889.3:n.1581+25G>T
ENST00000493991.5:n.505+25G>T
NM_001844.4:c.1581+25G>T	NP_001835.3:n.1581+25G>T
NM_033150.2:c.1374+25G>T	NP_149162.2:n.1374+25G>T
XM_006719242.2:c.1725+25G>T	XP_006719305.2:n.1725+25G>T
XM_011537928.1:c.1725+25G>T	XP_011536230.1:n.1725+25G>T
XM_011537929.1:c.1725+25G>T	XP_011536231.1:n.1725+25G>T
XM_011537930.1:c.1725+25G>T	XP_011536232.1:n.1725+25G>T
XM_011537931.1:c.1725+25G>T	XP_011536233.1:n.1725+25G>T
XM_011537932.1:c.1725+25G>T	XP_011536234.1:n.1725+25G>T
XM_011537933.1:c.1725+25G>T	XP_011536235.1:n.1725+25G>T
XM_011537934.1:c.1722+25G>T	XP_011536236.1:n.1722+25G>T
XM_011537935.1:c.669+25G>T	XP_011536237.1:n.669+25G>T
XM_017018828.1:c.1725+25G>T	XP_016874317.1:n.1725+25G>T
XM_017018829.1:c.1722+25G>T	XP_016874318.1:n.1722+25G>T
XM_017018830.1:c.1515+25G>T	XP_016874319.1:n.1515+25G>T
XM_017018831.2:c.1035+25G>T	XP_016874320.1:n.1035+25G>T
NM_001844.5:c.1581+25G>T MANE Select	NP_001835.3:n.1581+25G>T
NM_033150.3:c.1374+25G>T	NP_149162.2:n.1374+25G>T