Canonical Allele Identifier: CA449867248

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33132644C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164867C>T , CM000668.2:g.33164867C>T	GRCh38
NC_000006.11:g.33132644C>T , CM000668.1:g.33132644C>T	GRCh37
NC_000006.10:g.33240622C>T	NCBI36
NG_011589.1:g.32602G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000683572.1:n.654G>A
ENST00000341947.7:c.4848G>A MANE Select	ENSP00000339915.2:p.Arg1616=
ENST00000341947.6:c.4848G>A	ENSP00000339915.2:p.Arg1616=
ENST00000361917.5:c.4527G>A	ENSP00000355123.1:p.Arg1509=
ENST00000374708.8:c.4590G>A	ENSP00000363840.4:p.Arg1530=
ENST00000477772.1:n.638G>A
NM_080679.2:c.4527G>A	NP_542410.2:p.Arg1509=
NM_080680.2:c.4848G>A	NP_542411.2:p.Arg1616=
NM_080681.2:c.4590G>A	NP_542412.2:p.Arg1530=
XM_011514298.1:c.4002G>A	XP_011512600.1:p.Arg1334=
XM_011514299.1:c.4134G>A	XP_011512601.1:p.Arg1378=
XM_011514300.1:c.3954G>A	XP_011512602.1:p.Arg1318=
XM_011514301.1:c.3891G>A	XP_011512603.1:p.Arg1297=
XM_011514302.1:c.3735G>A	XP_011512604.1:p.Arg1245=
XM_011514299.2:c.4134G>A	XP_011512601.1:p.Arg1378=
XM_011514300.2:c.3954G>A	XP_011512602.1:p.Arg1318=
XM_011514302.2:c.3735G>A	XP_011512604.1:p.Arg1245=
XM_017010250.1:c.4848G>A	XP_016865739.1:p.Arg1616=
XM_017010251.2:c.3666G>A	XP_016865740.1:p.Arg1222=
NM_080680.3:c.4848G>A MANE Select	NP_542411.2:p.Arg1616=
NM_080681.3:c.4590G>A	NP_542412.2:p.Arg1530=
NM_080679.3:c.4527G>A	NP_542410.2:p.Arg1509=