Canonical Allele Identifier: CA689440277

Gene: COL2A1

Linked Data

• dbSNP Id: rs1196350864
• gnomAD v4: 12-47981675-A-AC
• MyVariant Identifiers: chr12:g.48375458_48375459insC (hg19) ; chr12:g.47981675_47981676insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47981676dup , CM000674.2:g.47981676dup	GRCh38
NC_000012.11:g.48375459dup , CM000674.1:g.48375459dup	GRCh37
NC_000012.10:g.46661726dup	NCBI36
NG_008072.1:g.27827dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000337299.7:c.2202+100dup	ENSP00000338213.6:n.2202+100dup
ENST00000380518.8:c.2409+100dup MANE Select	ENSP00000369889.3:n.2409+100dup
ENST00000337299.6:c.2202+100dup	ENSP00000338213.6:n.2202+100dup
ENST00000380518.7:c.2409+100dup	ENSP00000369889.3:n.2409+100dup
ENST00000483376.1:n.587+100dup
ENST00000493991.5:n.1495+100dup
NM_001844.4:c.2409+100dup	NP_001835.3:n.2409+100dup
NM_033150.2:c.2202+100dup	NP_149162.2:n.2202+100dup
XM_006719242.2:c.2553+100dup	XP_006719305.2:n.2553+100dup
XM_011537928.1:c.2553+100dup	XP_011536230.1:n.2553+100dup
XM_011537929.1:c.2553+100dup	XP_011536231.1:n.2553+100dup
XM_011537930.1:c.2553+100dup	XP_011536232.1:n.2553+100dup
XM_011537931.1:c.2553+100dup	XP_011536233.1:n.2553+100dup
XM_011537932.1:c.2553+100dup	XP_011536234.1:n.2553+100dup
XM_011537933.1:c.2553+100dup	XP_011536235.1:n.2553+100dup
XM_011537934.1:c.2550+100dup	XP_011536236.1:n.2550+100dup
XM_011537935.1:c.1497+100dup	XP_011536237.1:n.1497+100dup
XR_944910.1:n.208+250dup
XM_017018828.1:c.2553+100dup	XP_016874317.1:n.2553+100dup
XM_017018829.1:c.2550+100dup	XP_016874318.1:n.2550+100dup
XM_017018830.1:c.2343+100dup	XP_016874319.1:n.2343+100dup
XM_017018831.2:c.1863+100dup	XP_016874320.1:n.1863+100dup
NM_001844.5:c.2409+100dup MANE Select	NP_001835.3:n.2409+100dup
NM_033150.3:c.2202+100dup	NP_149162.2:n.2202+100dup