Canonical Allele Identifier: CA351215962

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238267853T>C (hg19) ; chr2:g.237359210T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237359210T>C , CM000664.2:g.237359210T>C	GRCh38
NC_000002.11:g.238267853T>C , CM000664.1:g.238267853T>C	GRCh37
NC_000002.10:g.237932592T>C	NCBI36
NG_008676.1:g.59998A>G , LRG_473:g.59998A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353578.9:c.5732A>G	ENSP00000315873.4:p.Glu1911Gly
ENST00000295550.9:c.6350A>G MANE Select	ENSP00000295550.4:p.Glu2117Gly
ENST00000295550.8:c.6350A>G	ENSP00000295550.4:p.Glu2117Gly
ENST00000347401.7:c.4529A>G	ENSP00000315609.4:p.Glu1510Gly
ENST00000353578.8:c.5732A>G	ENSP00000315873.4:p.Glu1911Gly
ENST00000409809.5:c.5732A>G	ENSP00000386844.1:p.Glu1911Gly
ENST00000472056.5:c.4529A>G	ENSP00000418285.1:p.Glu1510Gly
NM_004369.3:c.6350A>G , LRG_473t1:c.6350A>G	NP_004360.2:p.Glu2117Gly
NM_057166.4:c.4529A>G	NP_476507.3:p.Glu1510Gly
NM_057167.3:c.5732A>G	NP_476508.2:p.Glu1911Gly
XM_005246065.1:c.5750A>G	XP_005246122.1:p.Glu1917Gly
XM_005246066.1:c.5129A>G	XP_005246123.1:p.Glu1710Gly
XM_006712253.1:c.5849A>G	XP_006712316.1:p.Glu1950Gly
XM_011510574.1:c.6347A>G	XP_011508876.1:p.Glu2116Gly
XM_011510575.1:c.3944A>G	XP_011508877.1:p.Glu1315Gly
XM_017003304.1:c.3944A>G	XP_016858793.1:p.Glu1315Gly
XM_024452684.1:c.5129A>G	XP_024308452.1:p.Glu1710Gly
NM_004369.4:c.6350A>G MANE Select	NP_004360.2:p.Glu2117Gly
NM_057166.5:c.4529A>G	NP_476507.3:p.Glu1510Gly
NM_057167.4:c.5732A>G	NP_476508.2:p.Glu1911Gly