Canonical Allele Identifier: CA351191187

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238244871C>G (hg19) ; chr2:g.237336228C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336228C>G , CM000664.2:g.237336228C>G	GRCh38
NC_000002.11:g.238244871C>G , CM000664.1:g.238244871C>G	GRCh37
NC_000002.10:g.237909610C>G	NCBI36
NG_008676.1:g.82980G>C , LRG_473:g.82980G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1517G>C
ENST00000353578.9:c.8254G>C	ENSP00000315873.4:p.Ala2752Pro
ENST00000682957.1:c.999G>C
ENST00000684508.1:n.1139G>C
ENST00000295550.9:c.8872G>C MANE Select	ENSP00000295550.4:p.Ala2958Pro
ENST00000295550.8:c.8872G>C	ENSP00000295550.4:p.Ala2958Pro
ENST00000347401.7:c.7048G>C	ENSP00000315609.4:p.Ala2350Pro
ENST00000353578.8:c.8254G>C	ENSP00000315873.4:p.Ala2752Pro
ENST00000409809.5:c.8254G>C	ENSP00000386844.1:p.Ala2752Pro
ENST00000472056.5:c.7051G>C	ENSP00000418285.1:p.Ala2351Pro
ENST00000491769.1:n.5314G>C
NM_004369.3:c.8872G>C , LRG_473t1:c.8872G>C	NP_004360.2:p.Ala2958Pro
NM_057166.4:c.7051G>C	NP_476507.3:p.Ala2351Pro
NM_057167.3:c.8254G>C	NP_476508.2:p.Ala2752Pro
XM_005246065.1:c.8272G>C	XP_005246122.1:p.Ala2758Pro
XM_005246066.1:c.7651G>C	XP_005246123.1:p.Ala2551Pro
XM_006712253.1:c.8371G>C	XP_006712316.1:p.Ala2791Pro
XM_011510574.1:c.8869G>C	XP_011508876.1:p.Ala2957Pro
XM_011510575.1:c.6466G>C	XP_011508877.1:p.Ala2156Pro
XM_017003304.1:c.6466G>C	XP_016858793.1:p.Ala2156Pro
XM_024452684.1:c.7651G>C	XP_024308452.1:p.Ala2551Pro
NM_004369.4:c.8872G>C MANE Select	NP_004360.2:p.Ala2958Pro
NM_057166.5:c.7051G>C	NP_476507.3:p.Ala2351Pro
NM_057167.4:c.8254G>C	NP_476508.2:p.Ala2752Pro