Canonical Allele Identifier: CA363616313

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33132168T>C (hg19) ; chr6:g.33164391T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164391T>C , CM000668.2:g.33164391T>C	GRCh38
NC_000006.11:g.33132168T>C , CM000668.1:g.33132168T>C	GRCh37
NC_000006.10:g.33240146T>C	NCBI36
NG_011589.1:g.33078A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.752A>G
ENST00000341947.7:c.4946A>G MANE Select	ENSP00000339915.2:p.Gln1649Arg
ENST00000341947.6:c.4946A>G	ENSP00000339915.2:p.Gln1649Arg
ENST00000361917.5:c.4625A>G	ENSP00000355123.1:p.Gln1542Arg
ENST00000374708.8:c.4688A>G	ENSP00000363840.4:p.Gln1563Arg
ENST00000477772.1:n.736A>G
NM_080679.2:c.4625A>G	NP_542410.2:p.Gln1542Arg
NM_080680.2:c.4946A>G	NP_542411.2:p.Gln1649Arg
NM_080681.2:c.4688A>G	NP_542412.2:p.Gln1563Arg
XM_011514298.1:c.4100A>G	XP_011512600.1:p.Gln1367Arg
XM_011514299.1:c.4232A>G	XP_011512601.1:p.Gln1411Arg
XM_011514300.1:c.4052A>G	XP_011512602.1:p.Gln1351Arg
XM_011514301.1:c.3989A>G	XP_011512603.1:p.Gln1330Arg
XM_011514302.1:c.3833A>G	XP_011512604.1:p.Gln1278Arg
XM_011514299.2:c.4232A>G	XP_011512601.1:p.Gln1411Arg
XM_011514300.2:c.4052A>G	XP_011512602.1:p.Gln1351Arg
XM_011514302.2:c.3833A>G	XP_011512604.1:p.Gln1278Arg
XM_017010250.1:c.4946A>G	XP_016865739.1:p.Gln1649Arg
XM_017010251.2:c.3764A>G	XP_016865740.1:p.Gln1255Arg
NM_080680.3:c.4946A>G MANE Select	NP_542411.2:p.Gln1649Arg
NM_080681.3:c.4688A>G	NP_542412.2:p.Gln1563Arg
NM_080679.3:c.4625A>G	NP_542410.2:p.Gln1542Arg