Canonical Allele Identifier: CA351191121

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238244846T>A (hg19) ; chr2:g.237336203T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336203T>A , CM000664.2:g.237336203T>A	GRCh38
NC_000002.11:g.238244846T>A , CM000664.1:g.238244846T>A	GRCh37
NC_000002.10:g.237909585T>A	NCBI36
NG_008676.1:g.83005A>T , LRG_473:g.83005A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1542A>T
ENST00000353578.9:c.8279A>T	ENSP00000315873.4:p.Lys2760Met
ENST00000682957.1:c.1024A>T
ENST00000684508.1:n.1164A>T
ENST00000295550.9:c.8897A>T MANE Select	ENSP00000295550.4:p.Lys2966Met
ENST00000295550.8:c.8897A>T	ENSP00000295550.4:p.Lys2966Met
ENST00000347401.7:c.7073A>T	ENSP00000315609.4:p.Lys2358Met
ENST00000353578.8:c.8279A>T	ENSP00000315873.4:p.Lys2760Met
ENST00000409809.5:c.8279A>T	ENSP00000386844.1:p.Lys2760Met
ENST00000472056.5:c.7076A>T	ENSP00000418285.1:p.Lys2359Met
ENST00000491769.1:n.5339A>T
NM_004369.3:c.8897A>T , LRG_473t1:c.8897A>T	NP_004360.2:p.Lys2966Met
NM_057166.4:c.7076A>T	NP_476507.3:p.Lys2359Met
NM_057167.3:c.8279A>T	NP_476508.2:p.Lys2760Met
XM_005246065.1:c.8297A>T	XP_005246122.1:p.Lys2766Met
XM_005246066.1:c.7676A>T	XP_005246123.1:p.Lys2559Met
XM_006712253.1:c.8396A>T	XP_006712316.1:p.Lys2799Met
XM_011510574.1:c.8894A>T	XP_011508876.1:p.Lys2965Met
XM_011510575.1:c.6491A>T	XP_011508877.1:p.Lys2164Met
XM_017003304.1:c.6491A>T	XP_016858793.1:p.Lys2164Met
XM_024452684.1:c.7676A>T	XP_024308452.1:p.Lys2559Met
NM_004369.4:c.8897A>T MANE Select	NP_004360.2:p.Lys2966Met
NM_057166.5:c.7076A>T	NP_476507.3:p.Lys2359Met
NM_057167.4:c.8279A>T	NP_476508.2:p.Lys2760Met