Canonical Allele Identifier: CA351195261

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238249242C>G (hg19) ; chr2:g.237340599C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237340599C>G , CM000664.2:g.237340599C>G	GRCh38
NC_000002.11:g.238249242C>G , CM000664.1:g.238249242C>G	GRCh37
NC_000002.10:g.237913981C>G	NCBI36
NG_008676.1:g.78609G>C , LRG_473:g.78609G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.962G>C
ENST00000353578.9:c.7699G>C	ENSP00000315873.4:p.Gly2567Arg
ENST00000682957.1:c.320G>C
ENST00000684508.1:n.584G>C
ENST00000295550.9:c.8317G>C MANE Select	ENSP00000295550.4:p.Gly2773Arg
ENST00000295550.8:c.8317G>C	ENSP00000295550.4:p.Gly2773Arg
ENST00000347401.7:c.6493G>C	ENSP00000315609.4:p.Gly2165Arg
ENST00000353578.8:c.7699G>C	ENSP00000315873.4:p.Gly2567Arg
ENST00000409809.5:c.7699G>C	ENSP00000386844.1:p.Gly2567Arg
ENST00000468792.1:n.4G>C
ENST00000472056.5:c.6496G>C	ENSP00000418285.1:p.Gly2166Arg
ENST00000491769.1:n.4759G>C
NM_004369.3:c.8317G>C , LRG_473t1:c.8317G>C	NP_004360.2:p.Gly2773Arg
NM_057166.4:c.6496G>C	NP_476507.3:p.Gly2166Arg
NM_057167.3:c.7699G>C	NP_476508.2:p.Gly2567Arg
XM_005246065.1:c.7717G>C	XP_005246122.1:p.Gly2573Arg
XM_005246066.1:c.7096G>C	XP_005246123.1:p.Gly2366Arg
XM_006712253.1:c.7816G>C	XP_006712316.1:p.Gly2606Arg
XM_011510574.1:c.8314G>C	XP_011508876.1:p.Gly2772Arg
XM_011510575.1:c.5911G>C	XP_011508877.1:p.Gly1971Arg
XM_017003304.1:c.5911G>C	XP_016858793.1:p.Gly1971Arg
XM_024452684.1:c.7096G>C	XP_024308452.1:p.Gly2366Arg
NM_004369.4:c.8317G>C MANE Select	NP_004360.2:p.Gly2773Arg
NM_057166.5:c.6496G>C	NP_476507.3:p.Gly2166Arg
NM_057167.4:c.7699G>C	NP_476508.2:p.Gly2567Arg