Canonical Allele Identifier: CA384537152

Gene: COL2A1

Linked Data

• MyVariant Identifiers: chr12:g.48369361C>G (hg19) ; chr12:g.47975578C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47975578C>G , CM000674.2:g.47975578C>G	GRCh38
NC_000012.11:g.48369361C>G , CM000674.1:g.48369361C>G	GRCh37
NC_000012.10:g.46655628C>G	NCBI36
NG_008072.1:g.33925G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.3418G>C	ENSP00000338213.6:p.Gly1140Arg
ENST00000380518.8:c.3625G>C MANE Select	ENSP00000369889.3:p.Gly1209Arg
ENST00000337299.6:c.3418G>C	ENSP00000338213.6:p.Gly1140Arg
ENST00000380518.7:c.3625G>C	ENSP00000369889.3:p.Gly1209Arg
ENST00000493991.5:n.2711G>C
ENST00000546974.1:n.478G>C
NM_001844.4:c.3625G>C	NP_001835.3:p.Gly1209Arg
NM_033150.2:c.3418G>C	NP_149162.2:p.Gly1140Arg
XM_006719242.2:c.3769G>C	XP_006719305.2:p.Gly1257Arg
XM_011537928.1:c.3769G>C	XP_011536230.1:p.Gly1257Arg
XM_011537929.1:c.3769G>C	XP_011536231.1:p.Gly1257Arg
XM_011537930.1:c.3769G>C	XP_011536232.1:p.Gly1257Arg
XM_011537931.1:c.3769G>C	XP_011536233.1:p.Gly1257Arg
XM_011537932.1:c.3769G>C	XP_011536234.1:p.Gly1257Arg
XM_011537933.1:c.3769G>C	XP_011536235.1:p.Gly1257Arg
XM_011537934.1:c.3766G>C	XP_011536236.1:p.Gly1256Arg
XM_011537935.1:c.2713G>C	XP_011536237.1:p.Gly905Arg
XM_017018828.1:c.3769G>C	XP_016874317.1:p.Gly1257Arg
XM_017018829.1:c.3766G>C	XP_016874318.1:p.Gly1256Arg
XM_017018830.1:c.3559G>C	XP_016874319.1:p.Gly1187Arg
XM_017018831.2:c.3079G>C	XP_016874320.1:p.Gly1027Arg
NM_001844.5:c.3625G>C MANE Select	NP_001835.3:p.Gly1209Arg
NM_033150.3:c.3418G>C	NP_149162.2:p.Gly1140Arg