Canonical Allele Identifier: CA351191989

Gene: COL6A3

Linked Data

• ClinVar Variation Id: 2240652
• ClinVar RCV Id: RCV002767002
• MyVariant Identifiers: chr2:g.238245132C>T (hg19) ; chr2:g.237336489C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336489C>T , CM000664.2:g.237336489C>T	GRCh38
NC_000002.11:g.238245132C>T , CM000664.1:g.238245132C>T	GRCh37
NC_000002.10:g.237909871C>T	NCBI36
NG_008676.1:g.82719G>A , LRG_473:g.82719G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1256G>A
ENST00000353578.9:c.7993G>A	ENSP00000315873.4:p.Val2665Met
ENST00000682957.1:c.738G>A
ENST00000684508.1:n.878G>A
ENST00000295550.9:c.8611G>A MANE Select	ENSP00000295550.4:p.Val2871Met
ENST00000295550.8:c.8611G>A	ENSP00000295550.4:p.Val2871Met
ENST00000347401.7:c.6787G>A	ENSP00000315609.4:p.Val2263Met
ENST00000353578.8:c.7993G>A	ENSP00000315873.4:p.Val2665Met
ENST00000409809.5:c.7993G>A	ENSP00000386844.1:p.Val2665Met
ENST00000472056.5:c.6790G>A	ENSP00000418285.1:p.Val2264Met
ENST00000491769.1:n.5053G>A
NM_004369.3:c.8611G>A , LRG_473t1:c.8611G>A	NP_004360.2:p.Val2871Met
NM_057166.4:c.6790G>A	NP_476507.3:p.Val2264Met
NM_057167.3:c.7993G>A	NP_476508.2:p.Val2665Met
XM_005246065.1:c.8011G>A	XP_005246122.1:p.Val2671Met
XM_005246066.1:c.7390G>A	XP_005246123.1:p.Val2464Met
XM_006712253.1:c.8110G>A	XP_006712316.1:p.Val2704Met
XM_011510574.1:c.8608G>A	XP_011508876.1:p.Val2870Met
XM_011510575.1:c.6205G>A	XP_011508877.1:p.Val2069Met
XM_017003304.1:c.6205G>A	XP_016858793.1:p.Val2069Met
XM_024452684.1:c.7390G>A	XP_024308452.1:p.Val2464Met
NM_004369.4:c.8611G>A MANE Select	NP_004360.2:p.Val2871Met
NM_057166.5:c.6790G>A	NP_476507.3:p.Val2264Met
NM_057167.4:c.7993G>A	NP_476508.2:p.Val2665Met