Canonical Allele Identifier: CA431700595

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238244839C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336196C>T , CM000664.2:g.237336196C>T	GRCh38
NC_000002.11:g.238244839C>T , CM000664.1:g.238244839C>T	GRCh37
NC_000002.10:g.237909578C>T	NCBI36
NG_008676.1:g.83012G>A , LRG_473:g.83012G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1549G>A
ENST00000353578.9:c.8286G>A	ENSP00000315873.4:p.Glu2762=
ENST00000682957.1:c.1031G>A
ENST00000684508.1:n.1171G>A
ENST00000295550.9:c.8904G>A MANE Select	ENSP00000295550.4:p.Glu2968=
ENST00000295550.8:c.8904G>A	ENSP00000295550.4:p.Glu2968=
ENST00000347401.7:c.7080G>A	ENSP00000315609.4:p.Glu2360=
ENST00000353578.8:c.8286G>A	ENSP00000315873.4:p.Glu2762=
ENST00000409809.5:c.8286G>A	ENSP00000386844.1:p.Glu2762=
ENST00000472056.5:c.7083G>A	ENSP00000418285.1:p.Glu2361=
ENST00000491769.1:n.5346G>A
NM_004369.3:c.8904G>A , LRG_473t1:c.8904G>A	NP_004360.2:p.Glu2968=
NM_057166.4:c.7083G>A	NP_476507.3:p.Glu2361=
NM_057167.3:c.8286G>A	NP_476508.2:p.Glu2762=
XM_005246065.1:c.8304G>A	XP_005246122.1:p.Glu2768=
XM_005246066.1:c.7683G>A	XP_005246123.1:p.Glu2561=
XM_006712253.1:c.8403G>A	XP_006712316.1:p.Glu2801=
XM_011510574.1:c.8901G>A	XP_011508876.1:p.Glu2967=
XM_011510575.1:c.6498G>A	XP_011508877.1:p.Glu2166=
XM_017003304.1:c.6498G>A	XP_016858793.1:p.Glu2166=
XM_024452684.1:c.7683G>A	XP_024308452.1:p.Glu2561=
NM_004369.4:c.8904G>A MANE Select	NP_004360.2:p.Glu2968=
NM_057166.5:c.7083G>A	NP_476507.3:p.Glu2361=
NM_057167.4:c.8286G>A	NP_476508.2:p.Glu2762=