Canonical Allele Identifier: CA351191186

Gene: COL6A3

Linked Data

• dbSNP Id: rs1335450469
• gnomAD v2: 2-238244871-C-T
• gnomAD v4: 2-237336228-C-T
• MyVariant Identifiers: chr2:g.238244871C>T (hg19) ; chr2:g.237336228C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336228C>T , CM000664.2:g.237336228C>T	GRCh38
NC_000002.11:g.238244871C>T , CM000664.1:g.238244871C>T	GRCh37
NC_000002.10:g.237909610C>T	NCBI36
NG_008676.1:g.82980G>A , LRG_473:g.82980G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1517G>A
ENST00000353578.9:c.8254G>A	ENSP00000315873.4:p.Ala2752Thr
ENST00000682957.1:c.999G>A
ENST00000684508.1:n.1139G>A
ENST00000295550.9:c.8872G>A MANE Select	ENSP00000295550.4:p.Ala2958Thr
ENST00000295550.8:c.8872G>A	ENSP00000295550.4:p.Ala2958Thr
ENST00000347401.7:c.7048G>A	ENSP00000315609.4:p.Ala2350Thr
ENST00000353578.8:c.8254G>A	ENSP00000315873.4:p.Ala2752Thr
ENST00000409809.5:c.8254G>A	ENSP00000386844.1:p.Ala2752Thr
ENST00000472056.5:c.7051G>A	ENSP00000418285.1:p.Ala2351Thr
ENST00000491769.1:n.5314G>A
NM_004369.3:c.8872G>A , LRG_473t1:c.8872G>A	NP_004360.2:p.Ala2958Thr
NM_057166.4:c.7051G>A	NP_476507.3:p.Ala2351Thr
NM_057167.3:c.8254G>A	NP_476508.2:p.Ala2752Thr
XM_005246065.1:c.8272G>A	XP_005246122.1:p.Ala2758Thr
XM_005246066.1:c.7651G>A	XP_005246123.1:p.Ala2551Thr
XM_006712253.1:c.8371G>A	XP_006712316.1:p.Ala2791Thr
XM_011510574.1:c.8869G>A	XP_011508876.1:p.Ala2957Thr
XM_011510575.1:c.6466G>A	XP_011508877.1:p.Ala2156Thr
XM_017003304.1:c.6466G>A	XP_016858793.1:p.Ala2156Thr
XM_024452684.1:c.7651G>A	XP_024308452.1:p.Ala2551Thr
NM_004369.4:c.8872G>A MANE Select	NP_004360.2:p.Ala2958Thr
NM_057166.5:c.7051G>A	NP_476507.3:p.Ala2351Thr
NM_057167.4:c.8254G>A	NP_476508.2:p.Ala2752Thr