Canonical Allele Identifier: CA384545784

Gene: COL2A1

Linked Data

• MyVariant Identifiers: chr12:g.48375937C>G (hg19) ; chr12:g.47982154C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47982154C>G , CM000674.2:g.47982154C>G	GRCh38
NC_000012.11:g.48375937C>G , CM000674.1:g.48375937C>G	GRCh37
NC_000012.10:g.46662204C>G	NCBI36
NG_008072.1:g.27349G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000337299.7:c.2101G>C	ENSP00000338213.6:p.Val701Leu
ENST00000380518.8:c.2308G>C MANE Select	ENSP00000369889.3:p.Val770Leu
ENST00000337299.6:c.2101G>C	ENSP00000338213.6:p.Val701Leu
ENST00000380518.7:c.2308G>C	ENSP00000369889.3:p.Val770Leu
ENST00000483376.1:n.486G>C
ENST00000493991.5:n.1232G>C
NM_001844.4:c.2308G>C	NP_001835.3:p.Val770Leu
NM_033150.2:c.2101G>C	NP_149162.2:p.Val701Leu
XM_006719242.2:c.2452G>C	XP_006719305.2:p.Val818Leu
XM_011537928.1:c.2452G>C	XP_011536230.1:p.Val818Leu
XM_011537929.1:c.2452G>C	XP_011536231.1:p.Val818Leu
XM_011537930.1:c.2452G>C	XP_011536232.1:p.Val818Leu
XM_011537931.1:c.2452G>C	XP_011536233.1:p.Val818Leu
XM_011537932.1:c.2452G>C	XP_011536234.1:p.Val818Leu
XM_011537933.1:c.2452G>C	XP_011536235.1:p.Val818Leu
XM_011537934.1:c.2449G>C	XP_011536236.1:p.Val817Leu
XM_011537935.1:c.1396G>C	XP_011536237.1:p.Val466Leu
XR_944910.1:n.209-261C>G
XM_017018828.1:c.2452G>C	XP_016874317.1:p.Val818Leu
XM_017018829.1:c.2449G>C	XP_016874318.1:p.Val817Leu
XM_017018830.1:c.2242G>C	XP_016874319.1:p.Val748Leu
XM_017018831.2:c.1762G>C	XP_016874320.1:p.Val588Leu
NM_001844.5:c.2308G>C MANE Select	NP_001835.3:p.Val770Leu
NM_033150.3:c.2101G>C	NP_149162.2:p.Val701Leu