Canonical Allele Identifier: CA2678226711

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33164746-C-CGG

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164753_33164754dup , CM000668.2:g.33164753_33164754dup	GRCh38
NC_000006.11:g.33132530_33132531dup , CM000668.1:g.33132530_33132531dup	GRCh37
NC_000006.10:g.33240508_33240509dup	NCBI36
NG_011589.1:g.32721_32722dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.669+104_669+105dup
ENST00000341947.7:c.4863+104_4863+105dup MANE Select	ENSP00000339915.2:n.4863+104_4863+105dup
ENST00000341947.6:c.4863+104_4863+105dup	ENSP00000339915.2:n.4863+104_4863+105dup
ENST00000361917.5:c.4542+104_4542+105dup	ENSP00000355123.1:n.4542+104_4542+105dup
ENST00000374708.8:c.4605+104_4605+105dup	ENSP00000363840.4:n.4605+104_4605+105dup
ENST00000477772.1:n.653+104_653+105dup
NM_080679.2:c.4542+104_4542+105dup	NP_542410.2:n.4542+104_4542+105dup
NM_080680.2:c.4863+104_4863+105dup	NP_542411.2:n.4863+104_4863+105dup
NM_080681.2:c.4605+104_4605+105dup	NP_542412.2:n.4605+104_4605+105dup
XM_011514298.1:c.4017+104_4017+105dup	XP_011512600.1:n.4017+104_4017+105dup
XM_011514299.1:c.4149+104_4149+105dup	XP_011512601.1:n.4149+104_4149+105dup
XM_011514300.1:c.3969+104_3969+105dup	XP_011512602.1:n.3969+104_3969+105dup
XM_011514301.1:c.3906+104_3906+105dup	XP_011512603.1:n.3906+104_3906+105dup
XM_011514302.1:c.3750+104_3750+105dup	XP_011512604.1:n.3750+104_3750+105dup
XM_011514299.2:c.4149+104_4149+105dup	XP_011512601.1:n.4149+104_4149+105dup
XM_011514300.2:c.3969+104_3969+105dup	XP_011512602.1:n.3969+104_3969+105dup
XM_011514302.2:c.3750+104_3750+105dup	XP_011512604.1:n.3750+104_3750+105dup
XM_017010250.1:c.4863+104_4863+105dup	XP_016865739.1:n.4863+104_4863+105dup
XM_017010251.2:c.3681+104_3681+105dup	XP_016865740.1:n.3681+104_3681+105dup
NM_080680.3:c.4863+104_4863+105dup MANE Select	NP_542411.2:n.4863+104_4863+105dup
NM_080681.3:c.4605+104_4605+105dup	NP_542412.2:n.4605+104_4605+105dup
NM_080679.3:c.4542+104_4542+105dup	NP_542410.2:n.4542+104_4542+105dup