Canonical Allele Identifier: CA182788

Gene: COL11A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33165594G>A , CM000668.2:g.33165594G>A	GRCh38
NC_000006.11:g.33133371G>A , CM000668.1:g.33133371G>A	GRCh37
NC_000006.10:g.33241349G>A	NCBI36
NG_011589.1:g.31875C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_080680.3:c.4705C>T MANE Select	NP_542411.2:p.Arg1569Cys
ENST00000341947.7:c.4705C>T MANE Select	ENSP00000339915.2:p.Arg1569Cys
NM_080679.2:c.4384C>T	NP_542410.2:p.Arg1462Cys
NM_080679.3:c.4384C>T	NP_542410.2:p.Arg1462Cys
NM_080680.2:c.4705C>T	NP_542411.2:p.Arg1569Cys
NM_080681.2:c.4447C>T	NP_542412.2:p.Arg1483Cys
NM_080681.3:c.4447C>T	NP_542412.2:p.Arg1483Cys
ENST00000341947.6:c.4705C>T	ENSP00000339915.2:p.Arg1569Cys
ENST00000361917.5:c.4384C>T	ENSP00000355123.1:p.Arg1462Cys
ENST00000374708.8:c.4447C>T	ENSP00000363840.4:p.Arg1483Cys
ENST00000477772.1:n.495C>T
ENST00000683572.1:n.511C>T
XM_011514298.1:c.3859C>T	XP_011512600.1:p.Arg1287Cys
XM_011514299.1:c.3991C>T	XP_011512601.1:p.Arg1331Cys
XM_011514299.2:c.3991C>T	XP_011512601.1:p.Arg1331Cys
XM_011514300.1:c.3811C>T	XP_011512602.1:p.Arg1271Cys
XM_011514300.2:c.3811C>T	XP_011512602.1:p.Arg1271Cys
XM_011514301.1:c.3748C>T	XP_011512603.1:p.Arg1250Cys
XM_011514302.1:c.3592C>T	XP_011512604.1:p.Arg1198Cys
XM_011514302.2:c.3592C>T	XP_011512604.1:p.Arg1198Cys
XM_017010250.1:c.4705C>T	XP_016865739.1:p.Arg1569Cys
XM_017010251.2:c.3523C>T	XP_016865740.1:p.Arg1175Cys