Canonical Allele Identifier: CA384540105

Gene: COL2A1

Linked Data

• gnomAD v4: 12-47977339-T-G
• MyVariant Identifiers: chr12:g.48371122T>G (hg19) ; chr12:g.47977339T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47977339T>G , CM000674.2:g.47977339T>G	GRCh38
NC_000012.11:g.48371122T>G , CM000674.1:g.48371122T>G	GRCh37
NC_000012.10:g.46657389T>G	NCBI36
NG_008072.1:g.32164A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.3047A>C	ENSP00000338213.6:p.Gln1016Pro
ENST00000380518.8:c.3254A>C MANE Select	ENSP00000369889.3:p.Gln1085Pro
ENST00000337299.6:c.3047A>C	ENSP00000338213.6:p.Gln1016Pro
ENST00000380518.7:c.3254A>C	ENSP00000369889.3:p.Gln1085Pro
ENST00000493991.5:n.2340A>C
ENST00000546974.1:n.107A>C
NM_001844.4:c.3254A>C	NP_001835.3:p.Gln1085Pro
NM_033150.2:c.3047A>C	NP_149162.2:p.Gln1016Pro
XM_006719242.2:c.3398A>C	XP_006719305.2:p.Gln1133Pro
XM_011537928.1:c.3398A>C	XP_011536230.1:p.Gln1133Pro
XM_011537929.1:c.3398A>C	XP_011536231.1:p.Gln1133Pro
XM_011537930.1:c.3398A>C	XP_011536232.1:p.Gln1133Pro
XM_011537931.1:c.3398A>C	XP_011536233.1:p.Gln1133Pro
XM_011537932.1:c.3398A>C	XP_011536234.1:p.Gln1133Pro
XM_011537933.1:c.3398A>C	XP_011536235.1:p.Gln1133Pro
XM_011537934.1:c.3395A>C	XP_011536236.1:p.Gln1132Pro
XM_011537935.1:c.2342A>C	XP_011536237.1:p.Gln781Pro
XM_017018828.1:c.3398A>C	XP_016874317.1:p.Gln1133Pro
XM_017018829.1:c.3395A>C	XP_016874318.1:p.Gln1132Pro
XM_017018830.1:c.3188A>C	XP_016874319.1:p.Gln1063Pro
XM_017018831.2:c.2708A>C	XP_016874320.1:p.Gln903Pro
NM_001844.5:c.3254A>C MANE Select	NP_001835.3:p.Gln1085Pro
NM_033150.3:c.3047A>C	NP_149162.2:p.Gln1016Pro