Canonical Allele Identifier: CA351191797

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238245033A>T (hg19) ; chr2:g.237336390A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336390A>T , CM000664.2:g.237336390A>T	GRCh38
NC_000002.11:g.238245033A>T , CM000664.1:g.238245033A>T	GRCh37
NC_000002.10:g.237909772A>T	NCBI36
NG_008676.1:g.82818T>A , LRG_473:g.82818T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1355T>A
ENST00000353578.9:c.8092T>A	ENSP00000315873.4:p.Ser2698Thr
ENST00000682957.1:c.837T>A
ENST00000684508.1:n.977T>A
ENST00000295550.9:c.8710T>A MANE Select	ENSP00000295550.4:p.Ser2904Thr
ENST00000295550.8:c.8710T>A	ENSP00000295550.4:p.Ser2904Thr
ENST00000347401.7:c.6886T>A	ENSP00000315609.4:p.Ser2296Thr
ENST00000353578.8:c.8092T>A	ENSP00000315873.4:p.Ser2698Thr
ENST00000409809.5:c.8092T>A	ENSP00000386844.1:p.Ser2698Thr
ENST00000472056.5:c.6889T>A	ENSP00000418285.1:p.Ser2297Thr
ENST00000491769.1:n.5152T>A
NM_004369.3:c.8710T>A , LRG_473t1:c.8710T>A	NP_004360.2:p.Ser2904Thr
NM_057166.4:c.6889T>A	NP_476507.3:p.Ser2297Thr
NM_057167.3:c.8092T>A	NP_476508.2:p.Ser2698Thr
XM_005246065.1:c.8110T>A	XP_005246122.1:p.Ser2704Thr
XM_005246066.1:c.7489T>A	XP_005246123.1:p.Ser2497Thr
XM_006712253.1:c.8209T>A	XP_006712316.1:p.Ser2737Thr
XM_011510574.1:c.8707T>A	XP_011508876.1:p.Ser2903Thr
XM_011510575.1:c.6304T>A	XP_011508877.1:p.Ser2102Thr
XM_017003304.1:c.6304T>A	XP_016858793.1:p.Ser2102Thr
XM_024452684.1:c.7489T>A	XP_024308452.1:p.Ser2497Thr
NM_004369.4:c.8710T>A MANE Select	NP_004360.2:p.Ser2904Thr
NM_057166.5:c.6889T>A	NP_476507.3:p.Ser2297Thr
NM_057167.4:c.8092T>A	NP_476508.2:p.Ser2698Thr