Canonical Allele Identifier: CA431710109

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238253020T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237344377T>C , CM000664.2:g.237344377T>C	GRCh38
NC_000002.11:g.238253020T>C , CM000664.1:g.238253020T>C	GRCh37
NC_000002.10:g.237917759T>C	NCBI36
NG_008676.1:g.74831A>G , LRG_473:g.74831A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.286A>G
ENST00000353578.9:c.7023A>G	ENSP00000315873.4:p.Glu2341=
ENST00000295550.9:c.7641A>G MANE Select	ENSP00000295550.4:p.Glu2547=
ENST00000295550.8:c.7641A>G	ENSP00000295550.4:p.Glu2547=
ENST00000347401.7:c.5817A>G	ENSP00000315609.4:p.Glu1939=
ENST00000353578.8:c.7023A>G	ENSP00000315873.4:p.Glu2341=
ENST00000409809.5:c.7023A>G	ENSP00000386844.1:p.Glu2341=
ENST00000472056.5:c.5820A>G	ENSP00000418285.1:p.Glu1940=
ENST00000491769.1:n.1895A>G
NM_004369.3:c.7641A>G , LRG_473t1:c.7641A>G	NP_004360.2:p.Glu2547=
NM_057166.4:c.5820A>G	NP_476507.3:p.Glu1940=
NM_057167.3:c.7023A>G	NP_476508.2:p.Glu2341=
XM_005246065.1:c.7041A>G	XP_005246122.1:p.Glu2347=
XM_005246066.1:c.6420A>G	XP_005246123.1:p.Glu2140=
XM_006712253.1:c.7140A>G	XP_006712316.1:p.Glu2380=
XM_011510574.1:c.7638A>G	XP_011508876.1:p.Glu2546=
XM_011510575.1:c.5235A>G	XP_011508877.1:p.Glu1745=
XM_017003304.1:c.5235A>G	XP_016858793.1:p.Glu1745=
XM_024452684.1:c.6420A>G	XP_024308452.1:p.Glu2140=
NM_004369.4:c.7641A>G MANE Select	NP_004360.2:p.Glu2547=
NM_057166.5:c.5820A>G	NP_476507.3:p.Glu1940=
NM_057167.4:c.7023A>G	NP_476508.2:p.Glu2341=