Canonical Allele Identifier: CA363622651

Gene: COL11A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33167298C>T , CM000668.2:g.33167298C>T	GRCh38
NC_000006.11:g.33135075C>T , CM000668.1:g.33135075C>T	GRCh37
NC_000006.10:g.33243053C>T	NCBI36
NG_011589.1:g.30171G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_080680.3:c.4142G>A MANE Select	NP_542411.2:p.Gly1381Glu
ENST00000341947.7:c.4142G>A MANE Select	ENSP00000339915.2:p.Gly1381Glu
NM_080679.2:c.3821G>A	NP_542410.2:p.Gly1274Glu
NM_080679.3:c.3821G>A	NP_542410.2:p.Gly1274Glu
NM_080680.2:c.4142G>A	NP_542411.2:p.Gly1381Glu
NM_080681.2:c.3884G>A	NP_542412.2:p.Gly1295Glu
NM_080681.3:c.3884G>A	NP_542412.2:p.Gly1295Glu
ENST00000341947.6:c.4142G>A	ENSP00000339915.2:p.Gly1381Glu
ENST00000361917.5:c.3821G>A	ENSP00000355123.1:p.Gly1274Glu
ENST00000374708.8:c.3884G>A	ENSP00000363840.4:p.Gly1295Glu
ENST00000477772.1:n.273-1482G>A
ENST00000683572.1:n.109G>A
XM_011514298.1:c.3296G>A	XP_011512600.1:p.Gly1099Glu
XM_011514299.1:c.3428G>A	XP_011512601.1:p.Gly1143Glu
XM_011514299.2:c.3428G>A	XP_011512601.1:p.Gly1143Glu
XM_011514300.1:c.3248G>A	XP_011512602.1:p.Gly1083Glu
XM_011514300.2:c.3248G>A	XP_011512602.1:p.Gly1083Glu
XM_011514301.1:c.3185G>A	XP_011512603.1:p.Gly1062Glu
XM_011514302.1:c.3029G>A	XP_011512604.1:p.Gly1010Glu
XM_011514302.2:c.3029G>A	XP_011512604.1:p.Gly1010Glu
XM_017010250.1:c.4142G>A	XP_016865739.1:p.Gly1381Glu
XM_017010251.2:c.2960G>A	XP_016865740.1:p.Gly987Glu