Canonical Allele Identifier: CA363615646

Gene: COL11A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33163787C>T , CM000668.2:g.33163787C>T	GRCh38
NC_000006.11:g.33131564C>T , CM000668.1:g.33131564C>T	GRCh37
NC_000006.10:g.33239542C>T	NCBI36
NG_011589.1:g.33682G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_080680.3:c.5102G>A MANE Select	NP_542411.2:p.Arg1701Gln
ENST00000341947.7:c.5102G>A MANE Select	ENSP00000339915.2:p.Arg1701Gln
NM_080679.2:c.4781G>A	NP_542410.2:p.Arg1594Gln
NM_080679.3:c.4781G>A	NP_542410.2:p.Arg1594Gln
NM_080680.2:c.5102G>A	NP_542411.2:p.Arg1701Gln
NM_080681.2:c.4844G>A	NP_542412.2:p.Arg1615Gln
NM_080681.3:c.4844G>A	NP_542412.2:p.Arg1615Gln
ENST00000341947.6:c.5102G>A	ENSP00000339915.2:p.Arg1701Gln
ENST00000361917.5:c.4781G>A	ENSP00000355123.1:p.Arg1594Gln
ENST00000374708.8:c.4844G>A	ENSP00000363840.4:p.Arg1615Gln
ENST00000477772.1:n.892G>A
ENST00000683572.1:n.908G>A
XM_011514298.1:c.4256G>A	XP_011512600.1:p.Arg1419Gln
XM_011514299.1:c.4388G>A	XP_011512601.1:p.Arg1463Gln
XM_011514299.2:c.4388G>A	XP_011512601.1:p.Arg1463Gln
XM_011514300.1:c.4208G>A	XP_011512602.1:p.Arg1403Gln
XM_011514300.2:c.4208G>A	XP_011512602.1:p.Arg1403Gln
XM_011514301.1:c.4145G>A	XP_011512603.1:p.Arg1382Gln
XM_011514302.1:c.3989G>A	XP_011512604.1:p.Arg1330Gln
XM_011514302.2:c.3989G>A	XP_011512604.1:p.Arg1330Gln
XM_017010250.1:c.5102G>A	XP_016865739.1:p.Arg1701Gln
XM_017010251.2:c.3920G>A	XP_016865740.1:p.Arg1307Gln