Canonical Allele Identifier: CA3750021

Gene: COL11A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33165593C>T , CM000668.2:g.33165593C>T	GRCh38
NC_000006.11:g.33133370C>T , CM000668.1:g.33133370C>T	GRCh37
NC_000006.10:g.33241348C>T	NCBI36
NG_011589.1:g.31876G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_080680.3:c.4706G>A MANE Select	NP_542411.2:p.Arg1569His
ENST00000341947.7:c.4706G>A MANE Select	ENSP00000339915.2:p.Arg1569His
NM_080679.2:c.4385G>A	NP_542410.2:p.Arg1462His
NM_080679.3:c.4385G>A	NP_542410.2:p.Arg1462His
NM_080680.2:c.4706G>A	NP_542411.2:p.Arg1569His
NM_080681.2:c.4448G>A	NP_542412.2:p.Arg1483His
NM_080681.3:c.4448G>A	NP_542412.2:p.Arg1483His
ENST00000341947.6:c.4706G>A	ENSP00000339915.2:p.Arg1569His
ENST00000361917.5:c.4385G>A	ENSP00000355123.1:p.Arg1462His
ENST00000374708.8:c.4448G>A	ENSP00000363840.4:p.Arg1483His
ENST00000477772.1:n.496G>A
ENST00000683572.1:n.512G>A
XM_011514298.1:c.3860G>A	XP_011512600.1:p.Arg1287His
XM_011514299.1:c.3992G>A	XP_011512601.1:p.Arg1331His
XM_011514299.2:c.3992G>A	XP_011512601.1:p.Arg1331His
XM_011514300.1:c.3812G>A	XP_011512602.1:p.Arg1271His
XM_011514300.2:c.3812G>A	XP_011512602.1:p.Arg1271His
XM_011514301.1:c.3749G>A	XP_011512603.1:p.Arg1250His
XM_011514302.1:c.3593G>A	XP_011512604.1:p.Arg1198His
XM_011514302.2:c.3593G>A	XP_011512604.1:p.Arg1198His
XM_017010250.1:c.4706G>A	XP_016865739.1:p.Arg1569His
XM_017010251.2:c.3524G>A	XP_016865740.1:p.Arg1175His