Canonical Allele Identifier: CA449867329

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33132737C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164960C>T , CM000668.2:g.33164960C>T	GRCh38
NC_000006.11:g.33132737C>T , CM000668.1:g.33132737C>T	GRCh37
NC_000006.10:g.33240715C>T	NCBI36
NG_011589.1:g.32509G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.561G>A
ENST00000341947.7:c.4755G>A MANE Select	ENSP00000339915.2:p.Glu1585=
ENST00000341947.6:c.4755G>A	ENSP00000339915.2:p.Glu1585=
ENST00000361917.5:c.4434G>A	ENSP00000355123.1:p.Glu1478=
ENST00000374708.8:c.4497G>A	ENSP00000363840.4:p.Glu1499=
ENST00000477772.1:n.545G>A
NM_080679.2:c.4434G>A	NP_542410.2:p.Glu1478=
NM_080680.2:c.4755G>A	NP_542411.2:p.Glu1585=
NM_080681.2:c.4497G>A	NP_542412.2:p.Glu1499=
XM_011514298.1:c.3909G>A	XP_011512600.1:p.Glu1303=
XM_011514299.1:c.4041G>A	XP_011512601.1:p.Glu1347=
XM_011514300.1:c.3861G>A	XP_011512602.1:p.Glu1287=
XM_011514301.1:c.3798G>A	XP_011512603.1:p.Glu1266=
XM_011514302.1:c.3642G>A	XP_011512604.1:p.Glu1214=
XM_011514299.2:c.4041G>A	XP_011512601.1:p.Glu1347=
XM_011514300.2:c.3861G>A	XP_011512602.1:p.Glu1287=
XM_011514302.2:c.3642G>A	XP_011512604.1:p.Glu1214=
XM_017010250.1:c.4755G>A	XP_016865739.1:p.Glu1585=
XM_017010251.2:c.3573G>A	XP_016865740.1:p.Glu1191=
NM_080680.3:c.4755G>A MANE Select	NP_542411.2:p.Glu1585=
NM_080681.3:c.4497G>A	NP_542412.2:p.Glu1499=
NM_080679.3:c.4434G>A	NP_542410.2:p.Glu1478=