Canonical Allele Identifier: CA384541094

Gene: COL2A1

Linked Data

• dbSNP Id: rs149321146
• gnomAD v3: 12-47978295-G-C
• gnomAD v4: 12-47978295-G-C
• MyVariant Identifiers: chr12:g.48372078G>C (hg19) ; chr12:g.47978295G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47978295G>C , CM000674.2:g.47978295G>C	GRCh38
NC_000012.11:g.48372078G>C , CM000674.1:g.48372078G>C	GRCh37
NC_000012.10:g.46658345G>C	NCBI36
NG_008072.1:g.31208C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000337299.7:c.2792C>G	ENSP00000338213.6:p.Pro931Arg
ENST00000380518.8:c.2999C>G MANE Select	ENSP00000369889.3:p.Pro1000Arg
ENST00000337299.6:c.2792C>G	ENSP00000338213.6:p.Pro931Arg
ENST00000380518.7:c.2999C>G	ENSP00000369889.3:p.Pro1000Arg
ENST00000493991.5:n.2085C>G
NM_001844.4:c.2999C>G	NP_001835.3:p.Pro1000Arg
NM_033150.2:c.2792C>G	NP_149162.2:p.Pro931Arg
XM_006719242.2:c.3143C>G	XP_006719305.2:p.Pro1048Arg
XM_011537928.1:c.3143C>G	XP_011536230.1:p.Pro1048Arg
XM_011537929.1:c.3143C>G	XP_011536231.1:p.Pro1048Arg
XM_011537930.1:c.3143C>G	XP_011536232.1:p.Pro1048Arg
XM_011537931.1:c.3143C>G	XP_011536233.1:p.Pro1048Arg
XM_011537932.1:c.3143C>G	XP_011536234.1:p.Pro1048Arg
XM_011537933.1:c.3143C>G	XP_011536235.1:p.Pro1048Arg
XM_011537934.1:c.3140C>G	XP_011536236.1:p.Pro1047Arg
XM_011537935.1:c.2087C>G	XP_011536237.1:p.Pro696Arg
XM_017018828.1:c.3143C>G	XP_016874317.1:p.Pro1048Arg
XM_017018829.1:c.3140C>G	XP_016874318.1:p.Pro1047Arg
XM_017018830.1:c.2933C>G	XP_016874319.1:p.Pro978Arg
XM_017018831.2:c.2453C>G	XP_016874320.1:p.Pro818Arg
NM_001844.5:c.2999C>G MANE Select	NP_001835.3:p.Pro1000Arg
NM_033150.3:c.2792C>G	NP_149162.2:p.Pro931Arg