Canonical Allele Identifier: CA351191966

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238245119T>G (hg19) ; chr2:g.237336476T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336476T>G , CM000664.2:g.237336476T>G	GRCh38
NC_000002.11:g.238245119T>G , CM000664.1:g.238245119T>G	GRCh37
NC_000002.10:g.237909858T>G	NCBI36
NG_008676.1:g.82732A>C , LRG_473:g.82732A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1269A>C
ENST00000353578.9:c.8006A>C	ENSP00000315873.4:p.Lys2669Thr
ENST00000682957.1:c.751A>C
ENST00000684508.1:n.891A>C
ENST00000295550.9:c.8624A>C MANE Select	ENSP00000295550.4:p.Lys2875Thr
ENST00000295550.8:c.8624A>C	ENSP00000295550.4:p.Lys2875Thr
ENST00000347401.7:c.6800A>C	ENSP00000315609.4:p.Lys2267Thr
ENST00000353578.8:c.8006A>C	ENSP00000315873.4:p.Lys2669Thr
ENST00000409809.5:c.8006A>C	ENSP00000386844.1:p.Lys2669Thr
ENST00000472056.5:c.6803A>C	ENSP00000418285.1:p.Lys2268Thr
ENST00000491769.1:n.5066A>C
NM_004369.3:c.8624A>C , LRG_473t1:c.8624A>C	NP_004360.2:p.Lys2875Thr
NM_057166.4:c.6803A>C	NP_476507.3:p.Lys2268Thr
NM_057167.3:c.8006A>C	NP_476508.2:p.Lys2669Thr
XM_005246065.1:c.8024A>C	XP_005246122.1:p.Lys2675Thr
XM_005246066.1:c.7403A>C	XP_005246123.1:p.Lys2468Thr
XM_006712253.1:c.8123A>C	XP_006712316.1:p.Lys2708Thr
XM_011510574.1:c.8621A>C	XP_011508876.1:p.Lys2874Thr
XM_011510575.1:c.6218A>C	XP_011508877.1:p.Lys2073Thr
XM_017003304.1:c.6218A>C	XP_016858793.1:p.Lys2073Thr
XM_024452684.1:c.7403A>C	XP_024308452.1:p.Lys2468Thr
NM_004369.4:c.8624A>C MANE Select	NP_004360.2:p.Lys2875Thr
NM_057166.5:c.6803A>C	NP_476507.3:p.Lys2268Thr
NM_057167.4:c.8006A>C	NP_476508.2:p.Lys2669Thr