Canonical Allele Identifier: CA351195225

Gene: COL6A3

Linked Data

• dbSNP Id: rs1268023000
• gnomAD v2: 2-238249239-T-C
• gnomAD v4: 2-237340596-T-C
• MyVariant Identifiers: chr2:g.238249239T>C (hg19) ; chr2:g.237340596T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237340596T>C , CM000664.2:g.237340596T>C	GRCh38
NC_000002.11:g.238249239T>C , CM000664.1:g.238249239T>C	GRCh37
NC_000002.10:g.237913978T>C	NCBI36
NG_008676.1:g.78612A>G , LRG_473:g.78612A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.965A>G
ENST00000353578.9:c.7702A>G	ENSP00000315873.4:p.Ile2568Val
ENST00000682957.1:c.323A>G
ENST00000684508.1:n.587A>G
ENST00000295550.9:c.8320A>G MANE Select	ENSP00000295550.4:p.Ile2774Val
ENST00000295550.8:c.8320A>G	ENSP00000295550.4:p.Ile2774Val
ENST00000347401.7:c.6496A>G	ENSP00000315609.4:p.Ile2166Val
ENST00000353578.8:c.7702A>G	ENSP00000315873.4:p.Ile2568Val
ENST00000409809.5:c.7702A>G	ENSP00000386844.1:p.Ile2568Val
ENST00000468792.1:n.7A>G
ENST00000472056.5:c.6499A>G	ENSP00000418285.1:p.Ile2167Val
ENST00000491769.1:n.4762A>G
NM_004369.3:c.8320A>G , LRG_473t1:c.8320A>G	NP_004360.2:p.Ile2774Val
NM_057166.4:c.6499A>G	NP_476507.3:p.Ile2167Val
NM_057167.3:c.7702A>G	NP_476508.2:p.Ile2568Val
XM_005246065.1:c.7720A>G	XP_005246122.1:p.Ile2574Val
XM_005246066.1:c.7099A>G	XP_005246123.1:p.Ile2367Val
XM_006712253.1:c.7819A>G	XP_006712316.1:p.Ile2607Val
XM_011510574.1:c.8317A>G	XP_011508876.1:p.Ile2773Val
XM_011510575.1:c.5914A>G	XP_011508877.1:p.Ile1972Val
XM_017003304.1:c.5914A>G	XP_016858793.1:p.Ile1972Val
XM_024452684.1:c.7099A>G	XP_024308452.1:p.Ile2367Val
NM_004369.4:c.8320A>G MANE Select	NP_004360.2:p.Ile2774Val
NM_057166.5:c.6499A>G	NP_476507.3:p.Ile2167Val
NM_057167.4:c.7702A>G	NP_476508.2:p.Ile2568Val