Canonical Allele Identifier: CA351195762

Gene: COL6A3

Linked Data

• ClinVar Variation Id: 657835
• ClinVar RCV Id: RCV000814533
• dbSNP Id: rs144130137
• MyVariant Identifiers: chr2:g.238249302C>T (hg19) ; chr2:g.237340659C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237340659C>T , CM000664.2:g.237340659C>T	GRCh38
NC_000002.11:g.238249302C>T , CM000664.1:g.238249302C>T	GRCh37
NC_000002.10:g.237914041C>T	NCBI36
NG_008676.1:g.78549G>A , LRG_473:g.78549G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.902G>A
ENST00000353578.9:c.7639G>A	ENSP00000315873.4:p.Glu2547Lys
ENST00000682957.1:c.260G>A
ENST00000684508.1:n.524G>A
ENST00000295550.9:c.8257G>A MANE Select	ENSP00000295550.4:p.Glu2753Lys
ENST00000295550.8:c.8257G>A	ENSP00000295550.4:p.Glu2753Lys
ENST00000347401.7:c.6433G>A	ENSP00000315609.4:p.Glu2145Lys
ENST00000353578.8:c.7639G>A	ENSP00000315873.4:p.Glu2547Lys
ENST00000409809.5:c.7639G>A	ENSP00000386844.1:p.Glu2547Lys
ENST00000472056.5:c.6436G>A	ENSP00000418285.1:p.Glu2146Lys
ENST00000491769.1:n.4699G>A
NM_004369.3:c.8257G>A , LRG_473t1:c.8257G>A	NP_004360.2:p.Glu2753Lys
NM_057166.4:c.6436G>A	NP_476507.3:p.Glu2146Lys
NM_057167.3:c.7639G>A	NP_476508.2:p.Glu2547Lys
XM_005246065.1:c.7657G>A	XP_005246122.1:p.Glu2553Lys
XM_005246066.1:c.7036G>A	XP_005246123.1:p.Glu2346Lys
XM_006712253.1:c.7756G>A	XP_006712316.1:p.Glu2586Lys
XM_011510574.1:c.8254G>A	XP_011508876.1:p.Glu2752Lys
XM_011510575.1:c.5851G>A	XP_011508877.1:p.Glu1951Lys
XM_017003304.1:c.5851G>A	XP_016858793.1:p.Glu1951Lys
XM_024452684.1:c.7036G>A	XP_024308452.1:p.Glu2346Lys
NM_004369.4:c.8257G>A MANE Select	NP_004360.2:p.Glu2753Lys
NM_057166.5:c.6436G>A	NP_476507.3:p.Glu2146Lys
NM_057167.4:c.7639G>A	NP_476508.2:p.Glu2547Lys