Canonical Allele Identifier: CA431702556

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238245091G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336448G>C , CM000664.2:g.237336448G>C	GRCh38
NC_000002.11:g.238245091G>C , CM000664.1:g.238245091G>C	GRCh37
NC_000002.10:g.237909830G>C	NCBI36
NG_008676.1:g.82760C>G , LRG_473:g.82760C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1297C>G
ENST00000353578.9:c.8034C>G	ENSP00000315873.4:p.Thr2678=
ENST00000682957.1:c.779C>G
ENST00000684508.1:n.919C>G
ENST00000295550.9:c.8652C>G MANE Select	ENSP00000295550.4:p.Thr2884=
ENST00000295550.8:c.8652C>G	ENSP00000295550.4:p.Thr2884=
ENST00000347401.7:c.6828C>G	ENSP00000315609.4:p.Thr2276=
ENST00000353578.8:c.8034C>G	ENSP00000315873.4:p.Thr2678=
ENST00000409809.5:c.8034C>G	ENSP00000386844.1:p.Thr2678=
ENST00000472056.5:c.6831C>G	ENSP00000418285.1:p.Thr2277=
ENST00000491769.1:n.5094C>G
NM_004369.3:c.8652C>G , LRG_473t1:c.8652C>G	NP_004360.2:p.Thr2884=
NM_057166.4:c.6831C>G	NP_476507.3:p.Thr2277=
NM_057167.3:c.8034C>G	NP_476508.2:p.Thr2678=
XM_005246065.1:c.8052C>G	XP_005246122.1:p.Thr2684=
XM_005246066.1:c.7431C>G	XP_005246123.1:p.Thr2477=
XM_006712253.1:c.8151C>G	XP_006712316.1:p.Thr2717=
XM_011510574.1:c.8649C>G	XP_011508876.1:p.Thr2883=
XM_011510575.1:c.6246C>G	XP_011508877.1:p.Thr2082=
XM_017003304.1:c.6246C>G	XP_016858793.1:p.Thr2082=
XM_024452684.1:c.7431C>G	XP_024308452.1:p.Thr2477=
NM_004369.4:c.8652C>G MANE Select	NP_004360.2:p.Thr2884=
NM_057166.5:c.6831C>G	NP_476507.3:p.Thr2277=
NM_057167.4:c.8034C>G	NP_476508.2:p.Thr2678=