Canonical Allele Identifier: CA3750328

Gene: COL11A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33168735G>A , CM000668.2:g.33168735G>A	GRCh38
NC_000006.11:g.33136512G>A , CM000668.1:g.33136512G>A	GRCh37
NC_000006.10:g.33244490G>A	NCBI36
NG_011589.1:g.28734C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_080680.3:c.3877C>T MANE Select	NP_542411.2:p.Arg1293Ter
ENST00000341947.7:c.3877C>T MANE Select	ENSP00000339915.2:p.Arg1293Ter
NM_080679.2:c.3556C>T	NP_542410.2:p.Arg1186Ter
NM_080679.3:c.3556C>T	NP_542410.2:p.Arg1186Ter
NM_080680.2:c.3877C>T	NP_542411.2:p.Arg1293Ter
NM_080681.2:c.3619C>T	NP_542412.2:p.Arg1207Ter
NM_080681.3:c.3619C>T	NP_542412.2:p.Arg1207Ter
ENST00000341947.6:c.3877C>T	ENSP00000339915.2:p.Arg1293Ter
ENST00000361917.5:c.3556C>T	ENSP00000355123.1:p.Arg1186Ter
ENST00000374708.8:c.3619C>T	ENSP00000363840.4:p.Arg1207Ter
ENST00000477772.1:n.273-2919C>T
XM_011514298.1:c.3031C>T	XP_011512600.1:p.Arg1011Ter
XM_011514299.1:c.3163C>T	XP_011512601.1:p.Arg1055Ter
XM_011514299.2:c.3163C>T	XP_011512601.1:p.Arg1055Ter
XM_011514300.1:c.2983C>T	XP_011512602.1:p.Arg995Ter
XM_011514300.2:c.2983C>T	XP_011512602.1:p.Arg995Ter
XM_011514301.1:c.2920C>T	XP_011512603.1:p.Arg974Ter
XM_011514302.1:c.2764C>T	XP_011512604.1:p.Arg922Ter
XM_011514302.2:c.2764C>T	XP_011512604.1:p.Arg922Ter
XM_017010250.1:c.3877C>T	XP_016865739.1:p.Arg1293Ter
XM_017010251.2:c.2695C>T	XP_016865740.1:p.Arg899Ter