Canonical Allele Identifier: CA431698370

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238244797T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336154T>G , CM000664.2:g.237336154T>G	GRCh38
NC_000002.11:g.238244797T>G , CM000664.1:g.238244797T>G	GRCh37
NC_000002.10:g.237909536T>G	NCBI36
NG_008676.1:g.83054A>C , LRG_473:g.83054A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1591A>C
ENST00000353578.9:c.8328A>C	ENSP00000315873.4:p.Pro2776=
ENST00000682957.1:c.1073A>C
ENST00000684508.1:n.1213A>C
ENST00000295550.9:c.8946A>C MANE Select	ENSP00000295550.4:p.Pro2982=
ENST00000295550.8:c.8946A>C	ENSP00000295550.4:p.Pro2982=
ENST00000347401.7:c.7122A>C	ENSP00000315609.4:p.Pro2374=
ENST00000353578.8:c.8328A>C	ENSP00000315873.4:p.Pro2776=
ENST00000409809.5:c.8328A>C	ENSP00000386844.1:p.Pro2776=
ENST00000472056.5:c.7125A>C	ENSP00000418285.1:p.Pro2375=
ENST00000491769.1:n.5388A>C
NM_004369.3:c.8946A>C , LRG_473t1:c.8946A>C	NP_004360.2:p.Pro2982=
NM_057166.4:c.7125A>C	NP_476507.3:p.Pro2375=
NM_057167.3:c.8328A>C	NP_476508.2:p.Pro2776=
XM_005246065.1:c.8346A>C	XP_005246122.1:p.Pro2782=
XM_005246066.1:c.7725A>C	XP_005246123.1:p.Pro2575=
XM_006712253.1:c.8445A>C	XP_006712316.1:p.Pro2815=
XM_011510574.1:c.8943A>C	XP_011508876.1:p.Pro2981=
XM_011510575.1:c.6540A>C	XP_011508877.1:p.Pro2180=
XM_017003304.1:c.6540A>C	XP_016858793.1:p.Pro2180=
XM_024452684.1:c.7725A>C	XP_024308452.1:p.Pro2575=
NM_004369.4:c.8946A>C MANE Select	NP_004360.2:p.Pro2982=
NM_057166.5:c.7125A>C	NP_476507.3:p.Pro2375=
NM_057167.4:c.8328A>C	NP_476508.2:p.Pro2776=