Canonical Allele Identifier: CA431676540

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238258810G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237350167G>T , CM000664.2:g.237350167G>T	GRCh38
NC_000002.11:g.238258810G>T , CM000664.1:g.238258810G>T	GRCh37
NC_000002.10:g.237923549G>T	NCBI36
NG_008676.1:g.69041C>A , LRG_473:g.69041C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000353578.9:c.6241C>A	ENSP00000315873.4:p.Arg2081=
ENST00000295550.9:c.6859C>A MANE Select	ENSP00000295550.4:p.Arg2287=
ENST00000295550.8:c.6859C>A	ENSP00000295550.4:p.Arg2287=
ENST00000347401.7:c.5038C>A	ENSP00000315609.4:p.Arg1680=
ENST00000353578.8:c.6241C>A	ENSP00000315873.4:p.Arg2081=
ENST00000409809.5:c.6241C>A	ENSP00000386844.1:p.Arg2081=
ENST00000472056.5:c.5038C>A	ENSP00000418285.1:p.Arg1680=
ENST00000491769.1:n.1113C>A
NM_004369.3:c.6859C>A , LRG_473t1:c.6859C>A	NP_004360.2:p.Arg2287=
NM_057166.4:c.5038C>A	NP_476507.3:p.Arg1680=
NM_057167.3:c.6241C>A	NP_476508.2:p.Arg2081=
XM_005246065.1:c.6259C>A	XP_005246122.1:p.Arg2087=
XM_005246066.1:c.5638C>A	XP_005246123.1:p.Arg1880=
XM_006712253.1:c.6358C>A	XP_006712316.1:p.Arg2120=
XM_011510574.1:c.6856C>A	XP_011508876.1:p.Arg2286=
XM_011510575.1:c.4453C>A	XP_011508877.1:p.Arg1485=
XM_017003304.1:c.4453C>A	XP_016858793.1:p.Arg1485=
XM_024452684.1:c.5638C>A	XP_024308452.1:p.Arg1880=
NM_004369.4:c.6859C>A MANE Select	NP_004360.2:p.Arg2287=
NM_057166.5:c.5038C>A	NP_476507.3:p.Arg1680=
NM_057167.4:c.6241C>A	NP_476508.2:p.Arg2081=