Canonical Allele Identifier: CA6534662

Gene: COL2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47975490T>G , CM000674.2:g.47975490T>G	GRCh38
NC_000012.11:g.48369273T>G , CM000674.1:g.48369273T>G	GRCh37
NC_000012.10:g.46655540T>G	NCBI36
NG_008072.1:g.34013A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001844.5:c.3713A>C MANE Select	NP_001835.3:p.Tyr1238Ser
ENST00000380518.8:c.3713A>C MANE Select	ENSP00000369889.3:p.Tyr1238Ser
NM_001844.4:c.3713A>C	NP_001835.3:p.Tyr1238Ser
NM_033150.2:c.3506A>C	NP_149162.2:p.Tyr1169Ser
NM_033150.3:c.3506A>C	NP_149162.2:p.Tyr1169Ser
ENST00000337299.6:c.3506A>C	ENSP00000338213.6:p.Tyr1169Ser
ENST00000337299.7:c.3506A>C	ENSP00000338213.6:p.Tyr1169Ser
ENST00000380518.7:c.3713A>C	ENSP00000369889.3:p.Tyr1238Ser
ENST00000493991.5:n.2799A>C
ENST00000546974.1:n.566A>C
XM_006719242.2:c.3857A>C	XP_006719305.2:p.Tyr1286Ser
XM_011537928.1:c.3857A>C	XP_011536230.1:p.Tyr1286Ser
XM_011537929.1:c.3857A>C	XP_011536231.1:p.Tyr1286Ser
XM_011537930.1:c.3857A>C	XP_011536232.1:p.Tyr1286Ser
XM_011537931.1:c.3857A>C	XP_011536233.1:p.Tyr1286Ser
XM_011537932.1:c.3857A>C	XP_011536234.1:p.Tyr1286Ser
XM_011537933.1:c.3857A>C	XP_011536235.1:p.Tyr1286Ser
XM_011537934.1:c.3854A>C	XP_011536236.1:p.Tyr1285Ser
XM_011537935.1:c.2801A>C	XP_011536237.1:p.Tyr934Ser
XM_017018828.1:c.3857A>C	XP_016874317.1:p.Tyr1286Ser
XM_017018829.1:c.3854A>C	XP_016874318.1:p.Tyr1285Ser
XM_017018830.1:c.3647A>C	XP_016874319.1:p.Tyr1216Ser
XM_017018831.2:c.3167A>C	XP_016874320.1:p.Tyr1056Ser