Canonical Allele Identifier: CA2618498704

Gene: COL2A1

Linked Data

• gnomAD v4: 12-47977868-CCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47977869_47977870del , CM000674.2:g.47977869_47977870del	GRCh38
NC_000012.11:g.48371652_48371653del , CM000674.1:g.48371652_48371653del	GRCh37
NC_000012.10:g.46657919_46657920del	NCBI36
NG_008072.1:g.31633_31634del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.2904+140_2904+141del	ENSP00000338213.6:n.2904+140_2904+141del
ENST00000380518.8:c.3111+140_3111+141del MANE Select	ENSP00000369889.3:n.3111+140_3111+141del
ENST00000337299.6:c.2904+140_2904+141del	ENSP00000338213.6:n.2904+140_2904+141del
ENST00000380518.7:c.3111+140_3111+141del	ENSP00000369889.3:n.3111+140_3111+141del
ENST00000493991.5:n.2197+140_2197+141del
NM_001844.4:c.3111+140_3111+141del	NP_001835.3:n.3111+140_3111+141del
NM_033150.2:c.2904+140_2904+141del	NP_149162.2:n.2904+140_2904+141del
XM_006719242.2:c.3255+140_3255+141del	XP_006719305.2:n.3255+140_3255+141del
XM_011537928.1:c.3255+140_3255+141del	XP_011536230.1:n.3255+140_3255+141del
XM_011537929.1:c.3255+140_3255+141del	XP_011536231.1:n.3255+140_3255+141del
XM_011537930.1:c.3255+140_3255+141del	XP_011536232.1:n.3255+140_3255+141del
XM_011537931.1:c.3255+140_3255+141del	XP_011536233.1:n.3255+140_3255+141del
XM_011537932.1:c.3255+140_3255+141del	XP_011536234.1:n.3255+140_3255+141del
XM_011537933.1:c.3255+140_3255+141del	XP_011536235.1:n.3255+140_3255+141del
XM_011537934.1:c.3252+140_3252+141del	XP_011536236.1:n.3252+140_3252+141del
XM_011537935.1:c.2199+140_2199+141del	XP_011536237.1:n.2199+140_2199+141del
XM_017018828.1:c.3255+140_3255+141del	XP_016874317.1:n.3255+140_3255+141del
XM_017018829.1:c.3252+140_3252+141del	XP_016874318.1:n.3252+140_3252+141del
XM_017018830.1:c.3045+140_3045+141del	XP_016874319.1:n.3045+140_3045+141del
XM_017018831.2:c.2565+140_2565+141del	XP_016874320.1:n.2565+140_2565+141del
NM_001844.5:c.3111+140_3111+141del MANE Select	NP_001835.3:n.3111+140_3111+141del
NM_033150.3:c.2904+140_2904+141del	NP_149162.2:n.2904+140_2904+141del