Canonical Allele Identifier: CA449867042

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33132194C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164417C>T , CM000668.2:g.33164417C>T	GRCh38
NC_000006.11:g.33132194C>T , CM000668.1:g.33132194C>T	GRCh37
NC_000006.10:g.33240172C>T	NCBI36
NG_011589.1:g.33052G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.726G>A
ENST00000341947.7:c.4920G>A MANE Select	ENSP00000339915.2:p.Leu1640=
ENST00000341947.6:c.4920G>A	ENSP00000339915.2:p.Leu1640=
ENST00000361917.5:c.4599G>A	ENSP00000355123.1:p.Leu1533=
ENST00000374708.8:c.4662G>A	ENSP00000363840.4:p.Leu1554=
ENST00000477772.1:n.710G>A
NM_080679.2:c.4599G>A	NP_542410.2:p.Leu1533=
NM_080680.2:c.4920G>A	NP_542411.2:p.Leu1640=
NM_080681.2:c.4662G>A	NP_542412.2:p.Leu1554=
XM_011514298.1:c.4074G>A	XP_011512600.1:p.Leu1358=
XM_011514299.1:c.4206G>A	XP_011512601.1:p.Leu1402=
XM_011514300.1:c.4026G>A	XP_011512602.1:p.Leu1342=
XM_011514301.1:c.3963G>A	XP_011512603.1:p.Leu1321=
XM_011514302.1:c.3807G>A	XP_011512604.1:p.Leu1269=
XM_011514299.2:c.4206G>A	XP_011512601.1:p.Leu1402=
XM_011514300.2:c.4026G>A	XP_011512602.1:p.Leu1342=
XM_011514302.2:c.3807G>A	XP_011512604.1:p.Leu1269=
XM_017010250.1:c.4920G>A	XP_016865739.1:p.Leu1640=
XM_017010251.2:c.3738G>A	XP_016865740.1:p.Leu1246=
NM_080680.3:c.4920G>A MANE Select	NP_542411.2:p.Leu1640=
NM_080681.3:c.4662G>A	NP_542412.2:p.Leu1554=
NM_080679.3:c.4599G>A	NP_542410.2:p.Leu1533=