Canonical Allele Identifier: CA431701231

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238244902T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336259T>C , CM000664.2:g.237336259T>C	GRCh38
NC_000002.11:g.238244902T>C , CM000664.1:g.238244902T>C	GRCh37
NC_000002.10:g.237909641T>C	NCBI36
NG_008676.1:g.82949A>G , LRG_473:g.82949A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1486A>G
ENST00000353578.9:c.8223A>G	ENSP00000315873.4:p.Ala2741=
ENST00000682957.1:c.968A>G
ENST00000684508.1:n.1108A>G
ENST00000295550.9:c.8841A>G MANE Select	ENSP00000295550.4:p.Ala2947=
ENST00000295550.8:c.8841A>G	ENSP00000295550.4:p.Ala2947=
ENST00000347401.7:c.7017A>G	ENSP00000315609.4:p.Ala2339=
ENST00000353578.8:c.8223A>G	ENSP00000315873.4:p.Ala2741=
ENST00000409809.5:c.8223A>G	ENSP00000386844.1:p.Ala2741=
ENST00000472056.5:c.7020A>G	ENSP00000418285.1:p.Ala2340=
ENST00000491769.1:n.5283A>G
NM_004369.3:c.8841A>G , LRG_473t1:c.8841A>G	NP_004360.2:p.Ala2947=
NM_057166.4:c.7020A>G	NP_476507.3:p.Ala2340=
NM_057167.3:c.8223A>G	NP_476508.2:p.Ala2741=
XM_005246065.1:c.8241A>G	XP_005246122.1:p.Ala2747=
XM_005246066.1:c.7620A>G	XP_005246123.1:p.Ala2540=
XM_006712253.1:c.8340A>G	XP_006712316.1:p.Ala2780=
XM_011510574.1:c.8838A>G	XP_011508876.1:p.Ala2946=
XM_011510575.1:c.6435A>G	XP_011508877.1:p.Ala2145=
XM_017003304.1:c.6435A>G	XP_016858793.1:p.Ala2145=
XM_024452684.1:c.7620A>G	XP_024308452.1:p.Ala2540=
NM_004369.4:c.8841A>G MANE Select	NP_004360.2:p.Ala2947=
NM_057166.5:c.7020A>G	NP_476507.3:p.Ala2340=
NM_057167.4:c.8223A>G	NP_476508.2:p.Ala2741=