Canonical Allele Identifier: CA3749991

Gene: COL11A2

Linked Data

• dbSNP Id: rs755868290
• ExAC: 6:33132659 G / T
• gnomAD v2: 6-33132659-G-T
• gnomAD v4: 6-33164882-G-T
• MyVariant Identifiers: chr6:g.33132659G>T (hg19) ; chr6:g.33164882G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164882G>T , CM000668.2:g.33164882G>T	GRCh38
NC_000006.11:g.33132659G>T , CM000668.1:g.33132659G>T	GRCh37
NC_000006.10:g.33240637G>T	NCBI36
NG_011589.1:g.32587C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.639C>A
ENST00000341947.7:c.4833C>A MANE Select	ENSP00000339915.2:p.Thr1611=
ENST00000341947.6:c.4833C>A	ENSP00000339915.2:p.Thr1611=
ENST00000361917.5:c.4512C>A	ENSP00000355123.1:p.Thr1504=
ENST00000374708.8:c.4575C>A	ENSP00000363840.4:p.Thr1525=
ENST00000477772.1:n.623C>A
NM_080679.2:c.4512C>A	NP_542410.2:p.Thr1504=
NM_080680.2:c.4833C>A	NP_542411.2:p.Thr1611=
NM_080681.2:c.4575C>A	NP_542412.2:p.Thr1525=
XM_011514298.1:c.3987C>A	XP_011512600.1:p.Thr1329=
XM_011514299.1:c.4119C>A	XP_011512601.1:p.Thr1373=
XM_011514300.1:c.3939C>A	XP_011512602.1:p.Thr1313=
XM_011514301.1:c.3876C>A	XP_011512603.1:p.Thr1292=
XM_011514302.1:c.3720C>A	XP_011512604.1:p.Thr1240=
XM_011514299.2:c.4119C>A	XP_011512601.1:p.Thr1373=
XM_011514300.2:c.3939C>A	XP_011512602.1:p.Thr1313=
XM_011514302.2:c.3720C>A	XP_011512604.1:p.Thr1240=
XM_017010250.1:c.4833C>A	XP_016865739.1:p.Thr1611=
XM_017010251.2:c.3651C>A	XP_016865740.1:p.Thr1217=
NM_080680.3:c.4833C>A MANE Select	NP_542411.2:p.Thr1611=
NM_080681.3:c.4575C>A	NP_542412.2:p.Thr1525=
NM_080679.3:c.4512C>A	NP_542410.2:p.Thr1504=