Canonical Allele Identifier: CA947352022

Gene: COL2A1

Linked Data

• gnomAD v3: 12-47978121-G-GAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACA
• gnomAD v4: 12-47978121-G-GAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACA

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47978130_47978211dup , CM000674.2:g.47978130_47978211dup	GRCh38
NC_000012.11:g.48371913_48371994dup , CM000674.1:g.48371913_48371994dup	GRCh37
NC_000012.10:g.46658180_46658261dup	NCBI36
NG_008072.1:g.31300_31381dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000337299.7:c.2797-86_2797-5dup	ENSP00000338213.6:n.2797-86_2797-5dup
ENST00000380518.8:c.3004-86_3004-5dup MANE Select	ENSP00000369889.3:n.3004-86_3004-5dup
ENST00000337299.6:c.2797-86_2797-5dup	ENSP00000338213.6:n.2797-86_2797-5dup
ENST00000380518.7:c.3004-86_3004-5dup	ENSP00000369889.3:n.3004-86_3004-5dup
ENST00000493991.5:n.2090-86_2090-5dup
NM_001844.4:c.3004-86_3004-5dup	NP_001835.3:n.3004-86_3004-5dup
NM_033150.2:c.2797-86_2797-5dup	NP_149162.2:n.2797-86_2797-5dup
XM_006719242.2:c.3148-86_3148-5dup	XP_006719305.2:n.3148-86_3148-5dup
XM_011537928.1:c.3148-86_3148-5dup	XP_011536230.1:n.3148-86_3148-5dup
XM_011537929.1:c.3148-86_3148-5dup	XP_011536231.1:n.3148-86_3148-5dup
XM_011537930.1:c.3148-86_3148-5dup	XP_011536232.1:n.3148-86_3148-5dup
XM_011537931.1:c.3148-86_3148-5dup	XP_011536233.1:n.3148-86_3148-5dup
XM_011537932.1:c.3148-86_3148-5dup	XP_011536234.1:n.3148-86_3148-5dup
XM_011537933.1:c.3148-86_3148-5dup	XP_011536235.1:n.3148-86_3148-5dup
XM_011537934.1:c.3145-86_3145-5dup	XP_011536236.1:n.3145-86_3145-5dup
XM_011537935.1:c.2092-86_2092-5dup	XP_011536237.1:n.2092-86_2092-5dup
XM_017018828.1:c.3148-86_3148-5dup	XP_016874317.1:n.3148-86_3148-5dup
XM_017018829.1:c.3145-86_3145-5dup	XP_016874318.1:n.3145-86_3145-5dup
XM_017018830.1:c.2938-86_2938-5dup	XP_016874319.1:n.2938-86_2938-5dup
XM_017018831.2:c.2458-86_2458-5dup	XP_016874320.1:n.2458-86_2458-5dup
NM_001844.5:c.3004-86_3004-5dup MANE Select	NP_001835.3:n.3004-86_3004-5dup
NM_033150.3:c.2797-86_2797-5dup	NP_149162.2:n.2797-86_2797-5dup