Canonical Allele Identifier: CA449867283

Gene: COL11A2

Linked Data

• dbSNP Id: rs1206377050
• gnomAD v2: 6-33132662-C-T
• MyVariant Identifiers: chr6:g.33132662C>T (hg19) ; chr6:g.33164885C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164885C>T , CM000668.2:g.33164885C>T	GRCh38
NC_000006.11:g.33132662C>T , CM000668.1:g.33132662C>T	GRCh37
NC_000006.10:g.33240640C>T	NCBI36
NG_011589.1:g.32584G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.636G>A
ENST00000341947.7:c.4830G>A MANE Select	ENSP00000339915.2:p.Glu1610=
ENST00000341947.6:c.4830G>A	ENSP00000339915.2:p.Glu1610=
ENST00000361917.5:c.4509G>A	ENSP00000355123.1:p.Glu1503=
ENST00000374708.8:c.4572G>A	ENSP00000363840.4:p.Glu1524=
ENST00000477772.1:n.620G>A
NM_080679.2:c.4509G>A	NP_542410.2:p.Glu1503=
NM_080680.2:c.4830G>A	NP_542411.2:p.Glu1610=
NM_080681.2:c.4572G>A	NP_542412.2:p.Glu1524=
XM_011514298.1:c.3984G>A	XP_011512600.1:p.Glu1328=
XM_011514299.1:c.4116G>A	XP_011512601.1:p.Glu1372=
XM_011514300.1:c.3936G>A	XP_011512602.1:p.Glu1312=
XM_011514301.1:c.3873G>A	XP_011512603.1:p.Glu1291=
XM_011514302.1:c.3717G>A	XP_011512604.1:p.Glu1239=
XM_011514299.2:c.4116G>A	XP_011512601.1:p.Glu1372=
XM_011514300.2:c.3936G>A	XP_011512602.1:p.Glu1312=
XM_011514302.2:c.3717G>A	XP_011512604.1:p.Glu1239=
XM_017010250.1:c.4830G>A	XP_016865739.1:p.Glu1610=
XM_017010251.2:c.3648G>A	XP_016865740.1:p.Glu1216=
NM_080680.3:c.4830G>A MANE Select	NP_542411.2:p.Glu1610=
NM_080681.3:c.4572G>A	NP_542412.2:p.Glu1524=
NM_080679.3:c.4509G>A	NP_542410.2:p.Glu1503=