Canonical Allele Identifier: CA351191782

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238245026T>C (hg19) ; chr2:g.237336383T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336383T>C , CM000664.2:g.237336383T>C	GRCh38
NC_000002.11:g.238245026T>C , CM000664.1:g.238245026T>C	GRCh37
NC_000002.10:g.237909765T>C	NCBI36
NG_008676.1:g.82825A>G , LRG_473:g.82825A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1362A>G
ENST00000353578.9:c.8099A>G	ENSP00000315873.4:p.Lys2700Arg
ENST00000682957.1:c.844A>G
ENST00000684508.1:n.984A>G
ENST00000295550.9:c.8717A>G MANE Select	ENSP00000295550.4:p.Lys2906Arg
ENST00000295550.8:c.8717A>G	ENSP00000295550.4:p.Lys2906Arg
ENST00000347401.7:c.6893A>G	ENSP00000315609.4:p.Lys2298Arg
ENST00000353578.8:c.8099A>G	ENSP00000315873.4:p.Lys2700Arg
ENST00000409809.5:c.8099A>G	ENSP00000386844.1:p.Lys2700Arg
ENST00000472056.5:c.6896A>G	ENSP00000418285.1:p.Lys2299Arg
ENST00000491769.1:n.5159A>G
NM_004369.3:c.8717A>G , LRG_473t1:c.8717A>G	NP_004360.2:p.Lys2906Arg
NM_057166.4:c.6896A>G	NP_476507.3:p.Lys2299Arg
NM_057167.3:c.8099A>G	NP_476508.2:p.Lys2700Arg
XM_005246065.1:c.8117A>G	XP_005246122.1:p.Lys2706Arg
XM_005246066.1:c.7496A>G	XP_005246123.1:p.Lys2499Arg
XM_006712253.1:c.8216A>G	XP_006712316.1:p.Lys2739Arg
XM_011510574.1:c.8714A>G	XP_011508876.1:p.Lys2905Arg
XM_011510575.1:c.6311A>G	XP_011508877.1:p.Lys2104Arg
XM_017003304.1:c.6311A>G	XP_016858793.1:p.Lys2104Arg
XM_024452684.1:c.7496A>G	XP_024308452.1:p.Lys2499Arg
NM_004369.4:c.8717A>G MANE Select	NP_004360.2:p.Lys2906Arg
NM_057166.5:c.6896A>G	NP_476507.3:p.Lys2299Arg
NM_057167.4:c.8099A>G	NP_476508.2:p.Lys2700Arg