Canonical Allele Identifier: CA351191841

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238245054C>T (hg19) ; chr2:g.237336411C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336411C>T , CM000664.2:g.237336411C>T	GRCh38
NC_000002.11:g.238245054C>T , CM000664.1:g.238245054C>T	GRCh37
NC_000002.10:g.237909793C>T	NCBI36
NG_008676.1:g.82797G>A , LRG_473:g.82797G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1334G>A
ENST00000353578.9:c.8071G>A	ENSP00000315873.4:p.Val2691Met
ENST00000682957.1:c.816G>A
ENST00000684508.1:n.956G>A
ENST00000295550.9:c.8689G>A MANE Select	ENSP00000295550.4:p.Val2897Met
ENST00000295550.8:c.8689G>A	ENSP00000295550.4:p.Val2897Met
ENST00000347401.7:c.6865G>A	ENSP00000315609.4:p.Val2289Met
ENST00000353578.8:c.8071G>A	ENSP00000315873.4:p.Val2691Met
ENST00000409809.5:c.8071G>A	ENSP00000386844.1:p.Val2691Met
ENST00000472056.5:c.6868G>A	ENSP00000418285.1:p.Val2290Met
ENST00000491769.1:n.5131G>A
NM_004369.3:c.8689G>A , LRG_473t1:c.8689G>A	NP_004360.2:p.Val2897Met
NM_057166.4:c.6868G>A	NP_476507.3:p.Val2290Met
NM_057167.3:c.8071G>A	NP_476508.2:p.Val2691Met
XM_005246065.1:c.8089G>A	XP_005246122.1:p.Val2697Met
XM_005246066.1:c.7468G>A	XP_005246123.1:p.Val2490Met
XM_006712253.1:c.8188G>A	XP_006712316.1:p.Val2730Met
XM_011510574.1:c.8686G>A	XP_011508876.1:p.Val2896Met
XM_011510575.1:c.6283G>A	XP_011508877.1:p.Val2095Met
XM_017003304.1:c.6283G>A	XP_016858793.1:p.Val2095Met
XM_024452684.1:c.7468G>A	XP_024308452.1:p.Val2490Met
NM_004369.4:c.8689G>A MANE Select	NP_004360.2:p.Val2897Met
NM_057166.5:c.6868G>A	NP_476507.3:p.Val2290Met
NM_057167.4:c.8071G>A	NP_476508.2:p.Val2691Met