Canonical Allele Identifier: CA363622700

Gene: COL11A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33167305G>C , CM000668.2:g.33167305G>C	GRCh38
NC_000006.11:g.33135082G>C , CM000668.1:g.33135082G>C	GRCh37
NC_000006.10:g.33243060G>C	NCBI36
NG_011589.1:g.30164C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_080680.3:c.4135C>G MANE Select	NP_542411.2:p.Arg1379Gly
ENST00000341947.7:c.4135C>G MANE Select	ENSP00000339915.2:p.Arg1379Gly
NM_080679.2:c.3814C>G	NP_542410.2:p.Arg1272Gly
NM_080679.3:c.3814C>G	NP_542410.2:p.Arg1272Gly
NM_080680.2:c.4135C>G	NP_542411.2:p.Arg1379Gly
NM_080681.2:c.3877C>G	NP_542412.2:p.Arg1293Gly
NM_080681.3:c.3877C>G	NP_542412.2:p.Arg1293Gly
ENST00000341947.6:c.4135C>G	ENSP00000339915.2:p.Arg1379Gly
ENST00000361917.5:c.3814C>G	ENSP00000355123.1:p.Arg1272Gly
ENST00000374708.8:c.3877C>G	ENSP00000363840.4:p.Arg1293Gly
ENST00000477772.1:n.273-1489C>G
ENST00000683572.1:n.102C>G
XM_011514298.1:c.3289C>G	XP_011512600.1:p.Arg1097Gly
XM_011514299.1:c.3421C>G	XP_011512601.1:p.Arg1141Gly
XM_011514299.2:c.3421C>G	XP_011512601.1:p.Arg1141Gly
XM_011514300.1:c.3241C>G	XP_011512602.1:p.Arg1081Gly
XM_011514300.2:c.3241C>G	XP_011512602.1:p.Arg1081Gly
XM_011514301.1:c.3178C>G	XP_011512603.1:p.Arg1060Gly
XM_011514302.1:c.3022C>G	XP_011512604.1:p.Arg1008Gly
XM_011514302.2:c.3022C>G	XP_011512604.1:p.Arg1008Gly
XM_017010250.1:c.4135C>G	XP_016865739.1:p.Arg1379Gly
XM_017010251.2:c.2953C>G	XP_016865740.1:p.Arg985Gly