Canonical Allele Identifier: CA431698527

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238243318G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237334675G>A , CM000664.2:g.237334675G>A	GRCh38
NC_000002.11:g.238243318G>A , CM000664.1:g.238243318G>A	GRCh37
NC_000002.10:g.237908057G>A	NCBI36
NG_008676.1:g.84533C>T , LRG_473:g.84533C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1611-1127C>T
ENST00000353578.9:c.8562C>T	ENSP00000315873.4:p.Cys2854=
ENST00000682957.1:c.1307C>T
ENST00000683348.1:c.48C>T	ENSP00000508058.1:p.Cys16=
ENST00000295550.9:c.9180C>T MANE Select	ENSP00000295550.4:p.Cys3060=
ENST00000295550.8:c.9180C>T	ENSP00000295550.4:p.Cys3060=
ENST00000347401.7:c.7356C>T	ENSP00000315609.4:p.Cys2452=
ENST00000353578.8:c.8562C>T	ENSP00000315873.4:p.Cys2854=
ENST00000409809.5:c.8562C>T	ENSP00000386844.1:p.Cys2854=
ENST00000472056.5:c.7359C>T	ENSP00000418285.1:p.Cys2453=
ENST00000491769.1:n.5622C>T
ENST00000493608.1:n.112C>T
NM_004369.3:c.9180C>T , LRG_473t1:c.9180C>T	NP_004360.2:p.Cys3060=
NM_057166.4:c.7359C>T	NP_476507.3:p.Cys2453=
NM_057167.3:c.8562C>T	NP_476508.2:p.Cys2854=
XM_005246065.1:c.8580C>T	XP_005246122.1:p.Cys2860=
XM_005246066.1:c.7959C>T	XP_005246123.1:p.Cys2653=
XM_006712253.1:c.8679C>T	XP_006712316.1:p.Cys2893=
XM_011510574.1:c.9177C>T	XP_011508876.1:p.Cys3059=
XM_011510575.1:c.6774C>T	XP_011508877.1:p.Cys2258=
XM_017003304.1:c.6774C>T	XP_016858793.1:p.Cys2258=
XM_024452684.1:c.7959C>T	XP_024308452.1:p.Cys2653=
NM_004369.4:c.9180C>T MANE Select	NP_004360.2:p.Cys3060=
NM_057166.5:c.7359C>T	NP_476507.3:p.Cys2453=
NM_057167.4:c.8562C>T	NP_476508.2:p.Cys2854=