Canonical Allele Identifier: CA449866950

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33132119T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164342T>C , CM000668.2:g.33164342T>C	GRCh38
NC_000006.11:g.33132119T>C , CM000668.1:g.33132119T>C	GRCh37
NC_000006.10:g.33240097T>C	NCBI36
NG_011589.1:g.33127A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.801A>G
ENST00000341947.7:c.4995A>G MANE Select	ENSP00000339915.2:p.Arg1665=
ENST00000341947.6:c.4995A>G	ENSP00000339915.2:p.Arg1665=
ENST00000361917.5:c.4674A>G	ENSP00000355123.1:p.Arg1558=
ENST00000374708.8:c.4737A>G	ENSP00000363840.4:p.Arg1579=
ENST00000477772.1:n.785A>G
NM_080679.2:c.4674A>G	NP_542410.2:p.Arg1558=
NM_080680.2:c.4995A>G	NP_542411.2:p.Arg1665=
NM_080681.2:c.4737A>G	NP_542412.2:p.Arg1579=
XM_011514298.1:c.4149A>G	XP_011512600.1:p.Arg1383=
XM_011514299.1:c.4281A>G	XP_011512601.1:p.Arg1427=
XM_011514300.1:c.4101A>G	XP_011512602.1:p.Arg1367=
XM_011514301.1:c.4038A>G	XP_011512603.1:p.Arg1346=
XM_011514302.1:c.3882A>G	XP_011512604.1:p.Arg1294=
XM_011514299.2:c.4281A>G	XP_011512601.1:p.Arg1427=
XM_011514300.2:c.4101A>G	XP_011512602.1:p.Arg1367=
XM_011514302.2:c.3882A>G	XP_011512604.1:p.Arg1294=
XM_017010250.1:c.4995A>G	XP_016865739.1:p.Arg1665=
XM_017010251.2:c.3813A>G	XP_016865740.1:p.Arg1271=
NM_080680.3:c.4995A>G MANE Select	NP_542411.2:p.Arg1665=
NM_080681.3:c.4737A>G	NP_542412.2:p.Arg1579=
NM_080679.3:c.4674A>G	NP_542410.2:p.Arg1558=