Canonical Allele Identifier: CA351194303

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238249113A>C (hg19) ; chr2:g.237340470A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237340470A>C , CM000664.2:g.237340470A>C	GRCh38
NC_000002.11:g.238249113A>C , CM000664.1:g.238249113A>C	GRCh37
NC_000002.10:g.237913852A>C	NCBI36
NG_008676.1:g.78738T>G , LRG_473:g.78738T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1091T>G
ENST00000353578.9:c.7828T>G	ENSP00000315873.4:p.Leu2610Val
ENST00000682957.1:c.449T>G
ENST00000684508.1:n.713T>G
ENST00000295550.9:c.8446T>G MANE Select	ENSP00000295550.4:p.Leu2816Val
ENST00000295550.8:c.8446T>G	ENSP00000295550.4:p.Leu2816Val
ENST00000347401.7:c.6622T>G	ENSP00000315609.4:p.Leu2208Val
ENST00000353578.8:c.7828T>G	ENSP00000315873.4:p.Leu2610Val
ENST00000409809.5:c.7828T>G	ENSP00000386844.1:p.Leu2610Val
ENST00000468792.1:n.133T>G
ENST00000472056.5:c.6625T>G	ENSP00000418285.1:p.Leu2209Val
ENST00000491769.1:n.4888T>G
NM_004369.3:c.8446T>G , LRG_473t1:c.8446T>G	NP_004360.2:p.Leu2816Val
NM_057166.4:c.6625T>G	NP_476507.3:p.Leu2209Val
NM_057167.3:c.7828T>G	NP_476508.2:p.Leu2610Val
XM_005246065.1:c.7846T>G	XP_005246122.1:p.Leu2616Val
XM_005246066.1:c.7225T>G	XP_005246123.1:p.Leu2409Val
XM_006712253.1:c.7945T>G	XP_006712316.1:p.Leu2649Val
XM_011510574.1:c.8443T>G	XP_011508876.1:p.Leu2815Val
XM_011510575.1:c.6040T>G	XP_011508877.1:p.Leu2014Val
XM_017003304.1:c.6040T>G	XP_016858793.1:p.Leu2014Val
XM_024452684.1:c.7225T>G	XP_024308452.1:p.Leu2409Val
NM_004369.4:c.8446T>G MANE Select	NP_004360.2:p.Leu2816Val
NM_057166.5:c.6625T>G	NP_476507.3:p.Leu2209Val
NM_057167.4:c.7828T>G	NP_476508.2:p.Leu2610Val