Canonical Allele Identifier: CA363617531

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33164893-C-T
• MyVariant Identifiers: chr6:g.33132670C>T (hg19) ; chr6:g.33164893C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164893C>T , CM000668.2:g.33164893C>T	GRCh38
NC_000006.11:g.33132670C>T , CM000668.1:g.33132670C>T	GRCh37
NC_000006.10:g.33240648C>T	NCBI36
NG_011589.1:g.32576G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.628G>A
ENST00000341947.7:c.4822G>A MANE Select	ENSP00000339915.2:p.Gly1608Arg
ENST00000341947.6:c.4822G>A	ENSP00000339915.2:p.Gly1608Arg
ENST00000361917.5:c.4501G>A	ENSP00000355123.1:p.Gly1501Arg
ENST00000374708.8:c.4564G>A	ENSP00000363840.4:p.Gly1522Arg
ENST00000477772.1:n.612G>A
NM_080679.2:c.4501G>A	NP_542410.2:p.Gly1501Arg
NM_080680.2:c.4822G>A	NP_542411.2:p.Gly1608Arg
NM_080681.2:c.4564G>A	NP_542412.2:p.Gly1522Arg
XM_011514298.1:c.3976G>A	XP_011512600.1:p.Gly1326Arg
XM_011514299.1:c.4108G>A	XP_011512601.1:p.Gly1370Arg
XM_011514300.1:c.3928G>A	XP_011512602.1:p.Gly1310Arg
XM_011514301.1:c.3865G>A	XP_011512603.1:p.Gly1289Arg
XM_011514302.1:c.3709G>A	XP_011512604.1:p.Gly1237Arg
XM_011514299.2:c.4108G>A	XP_011512601.1:p.Gly1370Arg
XM_011514300.2:c.3928G>A	XP_011512602.1:p.Gly1310Arg
XM_011514302.2:c.3709G>A	XP_011512604.1:p.Gly1237Arg
XM_017010250.1:c.4822G>A	XP_016865739.1:p.Gly1608Arg
XM_017010251.2:c.3640G>A	XP_016865740.1:p.Gly1214Arg
NM_080680.3:c.4822G>A MANE Select	NP_542411.2:p.Gly1608Arg
NM_080681.3:c.4564G>A	NP_542412.2:p.Gly1522Arg
NM_080679.3:c.4501G>A	NP_542410.2:p.Gly1501Arg