Canonical Allele Identifier: CA351191975

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238245125G>A (hg19) ; chr2:g.237336482G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336482G>A , CM000664.2:g.237336482G>A	GRCh38
NC_000002.11:g.238245125G>A , CM000664.1:g.238245125G>A	GRCh37
NC_000002.10:g.237909864G>A	NCBI36
NG_008676.1:g.82726C>T , LRG_473:g.82726C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1263C>T
ENST00000353578.9:c.8000C>T	ENSP00000315873.4:p.Thr2667Ile
ENST00000682957.1:c.745C>T
ENST00000684508.1:n.885C>T
ENST00000295550.9:c.8618C>T MANE Select	ENSP00000295550.4:p.Thr2873Ile
ENST00000295550.8:c.8618C>T	ENSP00000295550.4:p.Thr2873Ile
ENST00000347401.7:c.6794C>T	ENSP00000315609.4:p.Thr2265Ile
ENST00000353578.8:c.8000C>T	ENSP00000315873.4:p.Thr2667Ile
ENST00000409809.5:c.8000C>T	ENSP00000386844.1:p.Thr2667Ile
ENST00000472056.5:c.6797C>T	ENSP00000418285.1:p.Thr2266Ile
ENST00000491769.1:n.5060C>T
NM_004369.3:c.8618C>T , LRG_473t1:c.8618C>T	NP_004360.2:p.Thr2873Ile
NM_057166.4:c.6797C>T	NP_476507.3:p.Thr2266Ile
NM_057167.3:c.8000C>T	NP_476508.2:p.Thr2667Ile
XM_005246065.1:c.8018C>T	XP_005246122.1:p.Thr2673Ile
XM_005246066.1:c.7397C>T	XP_005246123.1:p.Thr2466Ile
XM_006712253.1:c.8117C>T	XP_006712316.1:p.Thr2706Ile
XM_011510574.1:c.8615C>T	XP_011508876.1:p.Thr2872Ile
XM_011510575.1:c.6212C>T	XP_011508877.1:p.Thr2071Ile
XM_017003304.1:c.6212C>T	XP_016858793.1:p.Thr2071Ile
XM_024452684.1:c.7397C>T	XP_024308452.1:p.Thr2466Ile
NM_004369.4:c.8618C>T MANE Select	NP_004360.2:p.Thr2873Ile
NM_057166.5:c.6797C>T	NP_476507.3:p.Thr2266Ile
NM_057167.4:c.8000C>T	NP_476508.2:p.Thr2667Ile