Canonical Allele Identifier: CA351191808

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238245038T>G (hg19) ; chr2:g.237336395T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336395T>G , CM000664.2:g.237336395T>G	GRCh38
NC_000002.11:g.238245038T>G , CM000664.1:g.238245038T>G	GRCh37
NC_000002.10:g.237909777T>G	NCBI36
NG_008676.1:g.82813A>C , LRG_473:g.82813A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1350A>C
ENST00000353578.9:c.8087A>C	ENSP00000315873.4:p.Gln2696Pro
ENST00000682957.1:c.832A>C
ENST00000684508.1:n.972A>C
ENST00000295550.9:c.8705A>C MANE Select	ENSP00000295550.4:p.Gln2902Pro
ENST00000295550.8:c.8705A>C	ENSP00000295550.4:p.Gln2902Pro
ENST00000347401.7:c.6881A>C	ENSP00000315609.4:p.Gln2294Pro
ENST00000353578.8:c.8087A>C	ENSP00000315873.4:p.Gln2696Pro
ENST00000409809.5:c.8087A>C	ENSP00000386844.1:p.Gln2696Pro
ENST00000472056.5:c.6884A>C	ENSP00000418285.1:p.Gln2295Pro
ENST00000491769.1:n.5147A>C
NM_004369.3:c.8705A>C , LRG_473t1:c.8705A>C	NP_004360.2:p.Gln2902Pro
NM_057166.4:c.6884A>C	NP_476507.3:p.Gln2295Pro
NM_057167.3:c.8087A>C	NP_476508.2:p.Gln2696Pro
XM_005246065.1:c.8105A>C	XP_005246122.1:p.Gln2702Pro
XM_005246066.1:c.7484A>C	XP_005246123.1:p.Gln2495Pro
XM_006712253.1:c.8204A>C	XP_006712316.1:p.Gln2735Pro
XM_011510574.1:c.8702A>C	XP_011508876.1:p.Gln2901Pro
XM_011510575.1:c.6299A>C	XP_011508877.1:p.Gln2100Pro
XM_017003304.1:c.6299A>C	XP_016858793.1:p.Gln2100Pro
XM_024452684.1:c.7484A>C	XP_024308452.1:p.Gln2495Pro
NM_004369.4:c.8705A>C MANE Select	NP_004360.2:p.Gln2902Pro
NM_057166.5:c.6884A>C	NP_476507.3:p.Gln2295Pro
NM_057167.4:c.8087A>C	NP_476508.2:p.Gln2696Pro