Canonical Allele Identifier: CA351201433

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238252994T>C (hg19) ; chr2:g.237344351T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237344351T>C , CM000664.2:g.237344351T>C	GRCh38
NC_000002.11:g.238252994T>C , CM000664.1:g.238252994T>C	GRCh37
NC_000002.10:g.237917733T>C	NCBI36
NG_008676.1:g.74857A>G , LRG_473:g.74857A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000347401.8:c.312A>G
ENST00000353578.9:c.7049A>G	ENSP00000315873.4:p.Gln2350Arg
ENST00000295550.9:c.7667A>G MANE Select	ENSP00000295550.4:p.Gln2556Arg
ENST00000295550.8:c.7667A>G	ENSP00000295550.4:p.Gln2556Arg
ENST00000347401.7:c.5843A>G	ENSP00000315609.4:p.Gln1948Arg
ENST00000353578.8:c.7049A>G	ENSP00000315873.4:p.Gln2350Arg
ENST00000409809.5:c.7049A>G	ENSP00000386844.1:p.Gln2350Arg
ENST00000472056.5:c.5846A>G	ENSP00000418285.1:p.Gln1949Arg
ENST00000491769.1:n.1921A>G
NM_004369.3:c.7667A>G , LRG_473t1:c.7667A>G	NP_004360.2:p.Gln2556Arg
NM_057166.4:c.5846A>G	NP_476507.3:p.Gln1949Arg
NM_057167.3:c.7049A>G	NP_476508.2:p.Gln2350Arg
XM_005246065.1:c.7067A>G	XP_005246122.1:p.Gln2356Arg
XM_005246066.1:c.6446A>G	XP_005246123.1:p.Gln2149Arg
XM_006712253.1:c.7166A>G	XP_006712316.1:p.Gln2389Arg
XM_011510574.1:c.7664A>G	XP_011508876.1:p.Gln2555Arg
XM_011510575.1:c.5261A>G	XP_011508877.1:p.Gln1754Arg
XM_017003304.1:c.5261A>G	XP_016858793.1:p.Gln1754Arg
XM_024452684.1:c.6446A>G	XP_024308452.1:p.Gln2149Arg
NM_004369.4:c.7667A>G MANE Select	NP_004360.2:p.Gln2556Arg
NM_057166.5:c.5846A>G	NP_476507.3:p.Gln1949Arg
NM_057167.4:c.7049A>G	NP_476508.2:p.Gln2350Arg