Canonical Allele Identifier: CA2187576

Gene: COL6A3

Linked Data

• ClinVar Variation Id: 1363424
• ClinVar RCV Id: RCV002252713 ; RCV001934892 ; RCV003375384
• dbSNP Id: rs756294311
• ExAC: 2:238249242 C / T
• gnomAD v2: 2-238249242-C-T
• gnomAD v4: 2-237340599-C-T
• MyVariant Identifiers: chr2:g.238249242C>T (hg19) ; chr2:g.237340599C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.962G>A
ENST00000353578.9:c.7699G>A	ENSP00000315873.4:p.Gly2567Ser
ENST00000682957.1:c.320G>A
ENST00000684508.1:n.584G>A
ENST00000295550.9:c.8317G>A MANE Select	ENSP00000295550.4:p.Gly2773Ser
ENST00000295550.8:c.8317G>A	ENSP00000295550.4:p.Gly2773Ser
ENST00000347401.7:c.6493G>A	ENSP00000315609.4:p.Gly2165Ser
ENST00000353578.8:c.7699G>A	ENSP00000315873.4:p.Gly2567Ser
ENST00000409809.5:c.7699G>A	ENSP00000386844.1:p.Gly2567Ser
ENST00000468792.1:n.4G>A
ENST00000472056.5:c.6496G>A	ENSP00000418285.1:p.Gly2166Ser
ENST00000491769.1:n.4759G>A
NM_004369.3:c.8317G>A , LRG_473t1:c.8317G>A	NP_004360.2:p.Gly2773Ser
NM_057166.4:c.6496G>A	NP_476507.3:p.Gly2166Ser
NM_057167.3:c.7699G>A	NP_476508.2:p.Gly2567Ser
XM_005246065.1:c.7717G>A	XP_005246122.1:p.Gly2573Ser
XM_005246066.1:c.7096G>A	XP_005246123.1:p.Gly2366Ser
XM_006712253.1:c.7816G>A	XP_006712316.1:p.Gly2606Ser
XM_011510574.1:c.8314G>A	XP_011508876.1:p.Gly2772Ser
XM_011510575.1:c.5911G>A	XP_011508877.1:p.Gly1971Ser
XM_017003304.1:c.5911G>A	XP_016858793.1:p.Gly1971Ser
XM_024452684.1:c.7096G>A	XP_024308452.1:p.Gly2366Ser
NM_004369.4:c.8317G>A MANE Select	NP_004360.2:p.Gly2773Ser
NM_057166.5:c.6496G>A	NP_476507.3:p.Gly2166Ser
NM_057167.4:c.7699G>A	NP_476508.2:p.Gly2567Ser