Canonical Allele Identifier: CA2187413

Gene: COL6A3

Linked Data

• dbSNP Id: rs765061674
• ExAC: 2:238244831 C / T
• gnomAD v2: 2-238244831-C-T
• gnomAD v4: 2-237336188-C-T
• MyVariant Identifiers: chr2:g.238244831C>T (hg19) ; chr2:g.237336188C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336188C>T , CM000664.2:g.237336188C>T	GRCh38
NC_000002.11:g.238244831C>T , CM000664.1:g.238244831C>T	GRCh37
NC_000002.10:g.237909570C>T	NCBI36
NG_008676.1:g.83020G>A , LRG_473:g.83020G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1557G>A
ENST00000353578.9:c.8294G>A	ENSP00000315873.4:p.Arg2765Lys
ENST00000682957.1:c.1039G>A
ENST00000684508.1:n.1179G>A
ENST00000295550.9:c.8912G>A MANE Select	ENSP00000295550.4:p.Arg2971Lys
ENST00000295550.8:c.8912G>A	ENSP00000295550.4:p.Arg2971Lys
ENST00000347401.7:c.7088G>A	ENSP00000315609.4:p.Arg2363Lys
ENST00000353578.8:c.8294G>A	ENSP00000315873.4:p.Arg2765Lys
ENST00000409809.5:c.8294G>A	ENSP00000386844.1:p.Arg2765Lys
ENST00000472056.5:c.7091G>A	ENSP00000418285.1:p.Arg2364Lys
ENST00000491769.1:n.5354G>A
NM_004369.3:c.8912G>A , LRG_473t1:c.8912G>A	NP_004360.2:p.Arg2971Lys
NM_057166.4:c.7091G>A	NP_476507.3:p.Arg2364Lys
NM_057167.3:c.8294G>A	NP_476508.2:p.Arg2765Lys
XM_005246065.1:c.8312G>A	XP_005246122.1:p.Arg2771Lys
XM_005246066.1:c.7691G>A	XP_005246123.1:p.Arg2564Lys
XM_006712253.1:c.8411G>A	XP_006712316.1:p.Arg2804Lys
XM_011510574.1:c.8909G>A	XP_011508876.1:p.Arg2970Lys
XM_011510575.1:c.6506G>A	XP_011508877.1:p.Arg2169Lys
XM_017003304.1:c.6506G>A	XP_016858793.1:p.Arg2169Lys
XM_024452684.1:c.7691G>A	XP_024308452.1:p.Arg2564Lys
NM_004369.4:c.8912G>A MANE Select	NP_004360.2:p.Arg2971Lys
NM_057166.5:c.7091G>A	NP_476507.3:p.Arg2364Lys
NM_057167.4:c.8294G>A	NP_476508.2:p.Arg2765Lys