Canonical Allele Identifier: CA363617453

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33132651G>C (hg19) ; chr6:g.33164874G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164874G>C , CM000668.2:g.33164874G>C	GRCh38
NC_000006.11:g.33132651G>C , CM000668.1:g.33132651G>C	GRCh37
NC_000006.10:g.33240629G>C	NCBI36
NG_011589.1:g.32595C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.647C>G
ENST00000341947.7:c.4841C>G MANE Select	ENSP00000339915.2:p.Thr1614Arg
ENST00000341947.6:c.4841C>G	ENSP00000339915.2:p.Thr1614Arg
ENST00000361917.5:c.4520C>G	ENSP00000355123.1:p.Thr1507Arg
ENST00000374708.8:c.4583C>G	ENSP00000363840.4:p.Thr1528Arg
ENST00000477772.1:n.631C>G
NM_080679.2:c.4520C>G	NP_542410.2:p.Thr1507Arg
NM_080680.2:c.4841C>G	NP_542411.2:p.Thr1614Arg
NM_080681.2:c.4583C>G	NP_542412.2:p.Thr1528Arg
XM_011514298.1:c.3995C>G	XP_011512600.1:p.Thr1332Arg
XM_011514299.1:c.4127C>G	XP_011512601.1:p.Thr1376Arg
XM_011514300.1:c.3947C>G	XP_011512602.1:p.Thr1316Arg
XM_011514301.1:c.3884C>G	XP_011512603.1:p.Thr1295Arg
XM_011514302.1:c.3728C>G	XP_011512604.1:p.Thr1243Arg
XM_011514299.2:c.4127C>G	XP_011512601.1:p.Thr1376Arg
XM_011514300.2:c.3947C>G	XP_011512602.1:p.Thr1316Arg
XM_011514302.2:c.3728C>G	XP_011512604.1:p.Thr1243Arg
XM_017010250.1:c.4841C>G	XP_016865739.1:p.Thr1614Arg
XM_017010251.2:c.3659C>G	XP_016865740.1:p.Thr1220Arg
NM_080680.3:c.4841C>G MANE Select	NP_542411.2:p.Thr1614Arg
NM_080681.3:c.4583C>G	NP_542412.2:p.Thr1528Arg
NM_080679.3:c.4520C>G	NP_542410.2:p.Thr1507Arg