Canonical Allele Identifier: CA351195107

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238249213C>G (hg19) ; chr2:g.237340570C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237340570C>G , CM000664.2:g.237340570C>G	GRCh38
NC_000002.11:g.238249213C>G , CM000664.1:g.238249213C>G	GRCh37
NC_000002.10:g.237913952C>G	NCBI36
NG_008676.1:g.78638G>C , LRG_473:g.78638G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.991G>C
ENST00000353578.9:c.7728G>C	ENSP00000315873.4:p.Glu2576Asp
ENST00000682957.1:c.349G>C
ENST00000684508.1:n.613G>C
ENST00000295550.9:c.8346G>C MANE Select	ENSP00000295550.4:p.Glu2782Asp
ENST00000295550.8:c.8346G>C	ENSP00000295550.4:p.Glu2782Asp
ENST00000347401.7:c.6522G>C	ENSP00000315609.4:p.Glu2174Asp
ENST00000353578.8:c.7728G>C	ENSP00000315873.4:p.Glu2576Asp
ENST00000409809.5:c.7728G>C	ENSP00000386844.1:p.Glu2576Asp
ENST00000468792.1:n.33G>C
ENST00000472056.5:c.6525G>C	ENSP00000418285.1:p.Glu2175Asp
ENST00000491769.1:n.4788G>C
NM_004369.3:c.8346G>C , LRG_473t1:c.8346G>C	NP_004360.2:p.Glu2782Asp
NM_057166.4:c.6525G>C	NP_476507.3:p.Glu2175Asp
NM_057167.3:c.7728G>C	NP_476508.2:p.Glu2576Asp
XM_005246065.1:c.7746G>C	XP_005246122.1:p.Glu2582Asp
XM_005246066.1:c.7125G>C	XP_005246123.1:p.Glu2375Asp
XM_006712253.1:c.7845G>C	XP_006712316.1:p.Glu2615Asp
XM_011510574.1:c.8343G>C	XP_011508876.1:p.Glu2781Asp
XM_011510575.1:c.5940G>C	XP_011508877.1:p.Glu1980Asp
XM_017003304.1:c.5940G>C	XP_016858793.1:p.Glu1980Asp
XM_024452684.1:c.7125G>C	XP_024308452.1:p.Glu2375Asp
NM_004369.4:c.8346G>C MANE Select	NP_004360.2:p.Glu2782Asp
NM_057166.5:c.6525G>C	NP_476507.3:p.Glu2175Asp
NM_057167.4:c.7728G>C	NP_476508.2:p.Glu2576Asp