Canonical Allele Identifier: CA6534669

Gene: COL2A1

Linked Data

• ClinVar Variation Id: 1430481
• ClinVar RCV Id: RCV001931511
• dbSNP Id: rs371974287
• ExAC: 12:48369303 G / C
• gnomAD v2: 12-48369303-G-C
• gnomAD v4: 12-47975520-G-C
• MyVariant Identifiers: chr12:g.48369303G>C (hg19) ; chr12:g.47975520G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47975520G>C , CM000674.2:g.47975520G>C	GRCh38
NC_000012.11:g.48369303G>C , CM000674.1:g.48369303G>C	GRCh37
NC_000012.10:g.46655570G>C	NCBI36
NG_008072.1:g.33983C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.3476C>G	ENSP00000338213.6:p.Pro1159Arg
ENST00000380518.8:c.3683C>G MANE Select	ENSP00000369889.3:p.Pro1228Arg
ENST00000337299.6:c.3476C>G	ENSP00000338213.6:p.Pro1159Arg
ENST00000380518.7:c.3683C>G	ENSP00000369889.3:p.Pro1228Arg
ENST00000493991.5:n.2769C>G
ENST00000546974.1:n.536C>G
NM_001844.4:c.3683C>G	NP_001835.3:p.Pro1228Arg
NM_033150.2:c.3476C>G	NP_149162.2:p.Pro1159Arg
XM_006719242.2:c.3827C>G	XP_006719305.2:p.Pro1276Arg
XM_011537928.1:c.3827C>G	XP_011536230.1:p.Pro1276Arg
XM_011537929.1:c.3827C>G	XP_011536231.1:p.Pro1276Arg
XM_011537930.1:c.3827C>G	XP_011536232.1:p.Pro1276Arg
XM_011537931.1:c.3827C>G	XP_011536233.1:p.Pro1276Arg
XM_011537932.1:c.3827C>G	XP_011536234.1:p.Pro1276Arg
XM_011537933.1:c.3827C>G	XP_011536235.1:p.Pro1276Arg
XM_011537934.1:c.3824C>G	XP_011536236.1:p.Pro1275Arg
XM_011537935.1:c.2771C>G	XP_011536237.1:p.Pro924Arg
XM_017018828.1:c.3827C>G	XP_016874317.1:p.Pro1276Arg
XM_017018829.1:c.3824C>G	XP_016874318.1:p.Pro1275Arg
XM_017018830.1:c.3617C>G	XP_016874319.1:p.Pro1206Arg
XM_017018831.2:c.3137C>G	XP_016874320.1:p.Pro1046Arg
NM_001844.5:c.3683C>G MANE Select	NP_001835.3:p.Pro1228Arg
NM_033150.3:c.3476C>G	NP_149162.2:p.Pro1159Arg