Canonical Allele Identifier: CA182107

Gene: COL11A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33165955A>T , CM000668.2:g.33165955A>T	GRCh38
NC_000006.11:g.33133732A>T , CM000668.1:g.33133732A>T	GRCh37
NC_000006.10:g.33241710A>T	NCBI36
NG_011589.1:g.31514T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.264T>A
ENST00000341947.7:c.4458T>A MANE Select	ENSP00000339915.2:p.Gly1486=
ENST00000341947.6:c.4458T>A	ENSP00000339915.2:p.Gly1486=
ENST00000361917.5:c.4137T>A	ENSP00000355123.1:p.Gly1379=
ENST00000374708.8:c.4200T>A	ENSP00000363840.4:p.Gly1400=
ENST00000477772.1:n.273-139T>A
NM_080679.2:c.4137T>A	NP_542410.2:p.Gly1379=
NM_080680.2:c.4458T>A	NP_542411.2:p.Gly1486=
NM_080681.2:c.4200T>A	NP_542412.2:p.Gly1400=
XM_011514298.1:c.3612T>A	XP_011512600.1:p.Gly1204=
XM_011514299.1:c.3744T>A	XP_011512601.1:p.Gly1248=
XM_011514300.1:c.3564T>A	XP_011512602.1:p.Gly1188=
XM_011514301.1:c.3501T>A	XP_011512603.1:p.Gly1167=
XM_011514302.1:c.3345T>A	XP_011512604.1:p.Gly1115=
XM_011514299.2:c.3744T>A	XP_011512601.1:p.Gly1248=
XM_011514300.2:c.3564T>A	XP_011512602.1:p.Gly1188=
XM_011514302.2:c.3345T>A	XP_011512604.1:p.Gly1115=
XM_017010250.1:c.4458T>A	XP_016865739.1:p.Gly1486=
XM_017010251.2:c.3276T>A	XP_016865740.1:p.Gly1092=
NM_080680.3:c.4458T>A MANE Select	NP_542411.2:p.Gly1486=
NM_080681.3:c.4200T>A	NP_542412.2:p.Gly1400=
NM_080679.3:c.4137T>A	NP_542410.2:p.Gly1379=