Canonical Allele Identifier: CA431702373

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238245049A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336406A>C , CM000664.2:g.237336406A>C	GRCh38
NC_000002.11:g.238245049A>C , CM000664.1:g.238245049A>C	GRCh37
NC_000002.10:g.237909788A>C	NCBI36
NG_008676.1:g.82802T>G , LRG_473:g.82802T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1339T>G
ENST00000353578.9:c.8076T>G	ENSP00000315873.4:p.Thr2692=
ENST00000682957.1:c.821T>G
ENST00000684508.1:n.961T>G
ENST00000295550.9:c.8694T>G MANE Select	ENSP00000295550.4:p.Thr2898=
ENST00000295550.8:c.8694T>G	ENSP00000295550.4:p.Thr2898=
ENST00000347401.7:c.6870T>G	ENSP00000315609.4:p.Thr2290=
ENST00000353578.8:c.8076T>G	ENSP00000315873.4:p.Thr2692=
ENST00000409809.5:c.8076T>G	ENSP00000386844.1:p.Thr2692=
ENST00000472056.5:c.6873T>G	ENSP00000418285.1:p.Thr2291=
ENST00000491769.1:n.5136T>G
NM_004369.3:c.8694T>G , LRG_473t1:c.8694T>G	NP_004360.2:p.Thr2898=
NM_057166.4:c.6873T>G	NP_476507.3:p.Thr2291=
NM_057167.3:c.8076T>G	NP_476508.2:p.Thr2692=
XM_005246065.1:c.8094T>G	XP_005246122.1:p.Thr2698=
XM_005246066.1:c.7473T>G	XP_005246123.1:p.Thr2491=
XM_006712253.1:c.8193T>G	XP_006712316.1:p.Thr2731=
XM_011510574.1:c.8691T>G	XP_011508876.1:p.Thr2897=
XM_011510575.1:c.6288T>G	XP_011508877.1:p.Thr2096=
XM_017003304.1:c.6288T>G	XP_016858793.1:p.Thr2096=
XM_024452684.1:c.7473T>G	XP_024308452.1:p.Thr2491=
NM_004369.4:c.8694T>G MANE Select	NP_004360.2:p.Thr2898=
NM_057166.5:c.6873T>G	NP_476507.3:p.Thr2291=
NM_057167.4:c.8076T>G	NP_476508.2:p.Thr2692=