Canonical Allele Identifier: CA363616580

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33132229C>G (hg19) ; chr6:g.33164452C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164452C>G , CM000668.2:g.33164452C>G	GRCh38
NC_000006.11:g.33132229C>G , CM000668.1:g.33132229C>G	GRCh37
NC_000006.10:g.33240207C>G	NCBI36
NG_011589.1:g.33017G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.691G>C
ENST00000341947.7:c.4885G>C MANE Select	ENSP00000339915.2:p.Gly1629Arg
ENST00000341947.6:c.4885G>C	ENSP00000339915.2:p.Gly1629Arg
ENST00000361917.5:c.4564G>C	ENSP00000355123.1:p.Gly1522Arg
ENST00000374708.8:c.4627G>C	ENSP00000363840.4:p.Gly1543Arg
ENST00000477772.1:n.675G>C
NM_080679.2:c.4564G>C	NP_542410.2:p.Gly1522Arg
NM_080680.2:c.4885G>C	NP_542411.2:p.Gly1629Arg
NM_080681.2:c.4627G>C	NP_542412.2:p.Gly1543Arg
XM_011514298.1:c.4039G>C	XP_011512600.1:p.Gly1347Arg
XM_011514299.1:c.4171G>C	XP_011512601.1:p.Gly1391Arg
XM_011514300.1:c.3991G>C	XP_011512602.1:p.Gly1331Arg
XM_011514301.1:c.3928G>C	XP_011512603.1:p.Gly1310Arg
XM_011514302.1:c.3772G>C	XP_011512604.1:p.Gly1258Arg
XM_011514299.2:c.4171G>C	XP_011512601.1:p.Gly1391Arg
XM_011514300.2:c.3991G>C	XP_011512602.1:p.Gly1331Arg
XM_011514302.2:c.3772G>C	XP_011512604.1:p.Gly1258Arg
XM_017010250.1:c.4885G>C	XP_016865739.1:p.Gly1629Arg
XM_017010251.2:c.3703G>C	XP_016865740.1:p.Gly1235Arg
NM_080680.3:c.4885G>C MANE Select	NP_542411.2:p.Gly1629Arg
NM_080681.3:c.4627G>C	NP_542412.2:p.Gly1543Arg
NM_080679.3:c.4564G>C	NP_542410.2:p.Gly1522Arg