Canonical Allele Identifier: CA449867313

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33164927-C-T
• MyVariant Identifiers: chr6:g.33132704C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164927C>T , CM000668.2:g.33164927C>T	GRCh38
NC_000006.11:g.33132704C>T , CM000668.1:g.33132704C>T	GRCh37
NC_000006.10:g.33240682C>T	NCBI36
NG_011589.1:g.32542G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.594G>A
ENST00000341947.7:c.4788G>A MANE Select	ENSP00000339915.2:p.Arg1596=
ENST00000341947.6:c.4788G>A	ENSP00000339915.2:p.Arg1596=
ENST00000361917.5:c.4467G>A	ENSP00000355123.1:p.Arg1489=
ENST00000374708.8:c.4530G>A	ENSP00000363840.4:p.Arg1510=
ENST00000477772.1:n.578G>A
NM_080679.2:c.4467G>A	NP_542410.2:p.Arg1489=
NM_080680.2:c.4788G>A	NP_542411.2:p.Arg1596=
NM_080681.2:c.4530G>A	NP_542412.2:p.Arg1510=
XM_011514298.1:c.3942G>A	XP_011512600.1:p.Arg1314=
XM_011514299.1:c.4074G>A	XP_011512601.1:p.Arg1358=
XM_011514300.1:c.3894G>A	XP_011512602.1:p.Arg1298=
XM_011514301.1:c.3831G>A	XP_011512603.1:p.Arg1277=
XM_011514302.1:c.3675G>A	XP_011512604.1:p.Arg1225=
XM_011514299.2:c.4074G>A	XP_011512601.1:p.Arg1358=
XM_011514300.2:c.3894G>A	XP_011512602.1:p.Arg1298=
XM_011514302.2:c.3675G>A	XP_011512604.1:p.Arg1225=
XM_017010250.1:c.4788G>A	XP_016865739.1:p.Arg1596=
XM_017010251.2:c.3606G>A	XP_016865740.1:p.Arg1202=
NM_080680.3:c.4788G>A MANE Select	NP_542411.2:p.Arg1596=
NM_080681.3:c.4530G>A	NP_542412.2:p.Arg1510=
NM_080679.3:c.4467G>A	NP_542410.2:p.Arg1489=