Canonical Allele Identifier: CA2678226632

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33164718-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164718T>A , CM000668.2:g.33164718T>A	GRCh38
NC_000006.11:g.33132495T>A , CM000668.1:g.33132495T>A	GRCh37
NC_000006.10:g.33240473T>A	NCBI36
NG_011589.1:g.32751A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.669+134A>T
ENST00000341947.7:c.4863+134A>T MANE Select	ENSP00000339915.2:n.4863+134A>T
ENST00000341947.6:c.4863+134A>T	ENSP00000339915.2:n.4863+134A>T
ENST00000361917.5:c.4542+134A>T	ENSP00000355123.1:n.4542+134A>T
ENST00000374708.8:c.4605+134A>T	ENSP00000363840.4:n.4605+134A>T
ENST00000477772.1:n.653+134A>T
NM_080679.2:c.4542+134A>T	NP_542410.2:n.4542+134A>T
NM_080680.2:c.4863+134A>T	NP_542411.2:n.4863+134A>T
NM_080681.2:c.4605+134A>T	NP_542412.2:n.4605+134A>T
XM_011514298.1:c.4017+134A>T	XP_011512600.1:n.4017+134A>T
XM_011514299.1:c.4149+134A>T	XP_011512601.1:n.4149+134A>T
XM_011514300.1:c.3969+134A>T	XP_011512602.1:n.3969+134A>T
XM_011514301.1:c.3906+134A>T	XP_011512603.1:n.3906+134A>T
XM_011514302.1:c.3750+134A>T	XP_011512604.1:n.3750+134A>T
XM_011514299.2:c.4149+134A>T	XP_011512601.1:n.4149+134A>T
XM_011514300.2:c.3969+134A>T	XP_011512602.1:n.3969+134A>T
XM_011514302.2:c.3750+134A>T	XP_011512604.1:n.3750+134A>T
XM_017010250.1:c.4863+134A>T	XP_016865739.1:n.4863+134A>T
XM_017010251.2:c.3681+134A>T	XP_016865740.1:n.3681+134A>T
NM_080680.3:c.4863+134A>T MANE Select	NP_542411.2:n.4863+134A>T
NM_080681.3:c.4605+134A>T	NP_542412.2:n.4605+134A>T
NM_080679.3:c.4542+134A>T	NP_542410.2:n.4542+134A>T