Canonical Allele Identifier: CA363634673

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33138935C>G (hg19) ; chr6:g.33171158C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33171158C>G , CM000668.2:g.33171158C>G	GRCh38
NC_000006.11:g.33138935C>G , CM000668.1:g.33138935C>G	GRCh37
NC_000006.10:g.33246913C>G	NCBI36
NG_011589.1:g.26311G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341947.7:c.3322G>C MANE Select	ENSP00000339915.2:p.Gly1108Arg
ENST00000341947.6:c.3322G>C	ENSP00000339915.2:p.Gly1108Arg
ENST00000361917.5:c.3001G>C	ENSP00000355123.1:p.Gly1001Arg
ENST00000374708.8:c.3064G>C	ENSP00000363840.4:p.Gly1022Arg
ENST00000477772.1:n.273-5342G>C
NM_080679.2:c.3001G>C	NP_542410.2:p.Gly1001Arg
NM_080680.2:c.3322G>C	NP_542411.2:p.Gly1108Arg
NM_080681.2:c.3064G>C	NP_542412.2:p.Gly1022Arg
XM_011514298.1:c.2476G>C	XP_011512600.1:p.Gly826Arg
XM_011514299.1:c.2608G>C	XP_011512601.1:p.Gly870Arg
XM_011514300.1:c.2428G>C	XP_011512602.1:p.Gly810Arg
XM_011514301.1:c.2365G>C	XP_011512603.1:p.Gly789Arg
XM_011514302.1:c.2209G>C	XP_011512604.1:p.Gly737Arg
XM_011514299.2:c.2608G>C	XP_011512601.1:p.Gly870Arg
XM_011514300.2:c.2428G>C	XP_011512602.1:p.Gly810Arg
XM_011514302.2:c.2209G>C	XP_011512604.1:p.Gly737Arg
XM_017010250.1:c.3322G>C	XP_016865739.1:p.Gly1108Arg
XM_017010251.2:c.2140G>C	XP_016865740.1:p.Gly714Arg
NM_080680.3:c.3322G>C MANE Select	NP_542411.2:p.Gly1108Arg
NM_080681.3:c.3064G>C	NP_542412.2:p.Gly1022Arg
NM_080679.3:c.3001G>C	NP_542410.2:p.Gly1001Arg