Canonical Allele Identifier: CA2678228814

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33185666-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33185666G>A , CM000668.2:g.33185666G>A	GRCh38
NC_000006.11:g.33153443G>A , CM000668.1:g.33153443G>A	GRCh37
NC_000006.10:g.33261421G>A	NCBI36
NG_011589.1:g.11803C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682718.1:n.693+35C>T
ENST00000341947.7:c.876+35C>T MANE Select	ENSP00000339915.2:n.876+35C>T
ENST00000341947.6:c.876+35C>T	ENSP00000339915.2:n.876+35C>T
ENST00000361917.5:c.798+961C>T	ENSP00000355123.1:n.798+961C>T
ENST00000374708.8:c.799-612C>T	ENSP00000363840.4:n.799-612C>T
ENST00000457788.5:c.876+35C>T	ENSP00000405520.1:n.876+35C>T
NM_080679.2:c.798+961C>T	NP_542410.2:n.798+961C>T
NM_080680.2:c.876+35C>T	NP_542411.2:n.876+35C>T
NM_080681.2:c.799-612C>T	NP_542412.2:n.799-612C>T
XM_011514298.1:c.30+35C>T	XP_011512600.1:n.30+35C>T
XM_011514299.1:c.-221C>T	XP_011512601.1:n.-221C>T
XM_011514300.1:c.-221C>T	XP_011512602.1:n.-221C>T
XM_011514301.1:c.-221C>T	XP_011512603.1:n.-221C>T
XM_011514299.2:c.-221C>T	XP_011512601.1:n.-221C>T
XM_011514300.2:c.-221C>T	XP_011512602.1:n.-221C>T
XM_017010250.1:c.876+35C>T	XP_016865739.1:n.876+35C>T
NM_080680.3:c.876+35C>T MANE Select	NP_542411.2:n.876+35C>T
NM_080681.3:c.799-612C>T	NP_542412.2:n.799-612C>T
NM_080679.3:c.798+961C>T	NP_542410.2:n.798+961C>T