Canonical Allele Identifier: CA363628016

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33137246C>T (hg19) ; chr6:g.33169469C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33169469C>T , CM000668.2:g.33169469C>T	GRCh38
NC_000006.11:g.33137246C>T , CM000668.1:g.33137246C>T	GRCh37
NC_000006.10:g.33245224C>T	NCBI36
NG_011589.1:g.28000G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341947.7:c.3712G>A MANE Select	ENSP00000339915.2:p.Glu1238Lys
ENST00000341947.6:c.3712G>A	ENSP00000339915.2:p.Glu1238Lys
ENST00000361917.5:c.3391G>A	ENSP00000355123.1:p.Glu1131Lys
ENST00000374708.8:c.3454G>A	ENSP00000363840.4:p.Glu1152Lys
ENST00000477772.1:n.273-3653G>A
NM_080679.2:c.3391G>A	NP_542410.2:p.Glu1131Lys
NM_080680.2:c.3712G>A	NP_542411.2:p.Glu1238Lys
NM_080681.2:c.3454G>A	NP_542412.2:p.Glu1152Lys
XM_011514298.1:c.2866G>A	XP_011512600.1:p.Glu956Lys
XM_011514299.1:c.2998G>A	XP_011512601.1:p.Glu1000Lys
XM_011514300.1:c.2818G>A	XP_011512602.1:p.Glu940Lys
XM_011514301.1:c.2755G>A	XP_011512603.1:p.Glu919Lys
XM_011514302.1:c.2599G>A	XP_011512604.1:p.Glu867Lys
XM_011514299.2:c.2998G>A	XP_011512601.1:p.Glu1000Lys
XM_011514300.2:c.2818G>A	XP_011512602.1:p.Glu940Lys
XM_011514302.2:c.2599G>A	XP_011512604.1:p.Glu867Lys
XM_017010250.1:c.3712G>A	XP_016865739.1:p.Glu1238Lys
XM_017010251.2:c.2530G>A	XP_016865740.1:p.Glu844Lys
NM_080680.3:c.3712G>A MANE Select	NP_542411.2:p.Glu1238Lys
NM_080681.3:c.3454G>A	NP_542412.2:p.Glu1152Lys
NM_080679.3:c.3391G>A	NP_542410.2:p.Glu1131Lys