Canonical Allele Identifier: CA2034476346

Gene: COL2A1

Linked Data

• dbSNP Id: rs1938766481
• gnomAD v4: 12-47977268-TCAGCCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47977271_47977276del , CM000674.2:g.47977271_47977276del	GRCh38
NC_000012.11:g.48371054_48371059del , CM000674.1:g.48371054_48371059del	GRCh37
NC_000012.10:g.46657321_46657326del	NCBI36
NG_008072.1:g.32229_32234del

Transcript Alleles

HGVS	Amino-acid change
ENST00000337299.7:c.3066+46_3066+51del	ENSP00000338213.6:n.3066+46_3066+51del
ENST00000380518.8:c.3273+46_3273+51del MANE Select	ENSP00000369889.3:n.3273+46_3273+51del
ENST00000337299.6:c.3066+46_3066+51del	ENSP00000338213.6:n.3066+46_3066+51del
ENST00000380518.7:c.3273+46_3273+51del	ENSP00000369889.3:n.3273+46_3273+51del
ENST00000493991.5:n.2359+46_2359+51del
ENST00000546974.1:n.126+46_126+51del
NM_001844.4:c.3273+46_3273+51del	NP_001835.3:n.3273+46_3273+51del
NM_033150.2:c.3066+46_3066+51del	NP_149162.2:n.3066+46_3066+51del
XM_006719242.2:c.3417+46_3417+51del	XP_006719305.2:n.3417+46_3417+51del
XM_011537928.1:c.3417+46_3417+51del	XP_011536230.1:n.3417+46_3417+51del
XM_011537929.1:c.3417+46_3417+51del	XP_011536231.1:n.3417+46_3417+51del
XM_011537930.1:c.3417+46_3417+51del	XP_011536232.1:n.3417+46_3417+51del
XM_011537931.1:c.3417+46_3417+51del	XP_011536233.1:n.3417+46_3417+51del
XM_011537932.1:c.3417+46_3417+51del	XP_011536234.1:n.3417+46_3417+51del
XM_011537933.1:c.3417+46_3417+51del	XP_011536235.1:n.3417+46_3417+51del
XM_011537934.1:c.3414+46_3414+51del	XP_011536236.1:n.3414+46_3414+51del
XM_011537935.1:c.2361+46_2361+51del	XP_011536237.1:n.2361+46_2361+51del
XM_017018828.1:c.3417+46_3417+51del	XP_016874317.1:n.3417+46_3417+51del
XM_017018829.1:c.3414+46_3414+51del	XP_016874318.1:n.3414+46_3414+51del
XM_017018830.1:c.3207+46_3207+51del	XP_016874319.1:n.3207+46_3207+51del
XM_017018831.2:c.2727+46_2727+51del	XP_016874320.1:n.2727+46_2727+51del
NM_001844.5:c.3273+46_3273+51del MANE Select	NP_001835.3:n.3273+46_3273+51del
NM_033150.3:c.3066+46_3066+51del	NP_149162.2:n.3066+46_3066+51del