Canonical Allele Identifier: CA351202592

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238253163T>C (hg19) ; chr2:g.237344520T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237344520T>C , CM000664.2:g.237344520T>C	GRCh38
NC_000002.11:g.238253163T>C , CM000664.1:g.238253163T>C	GRCh37
NC_000002.10:g.237917902T>C	NCBI36
NG_008676.1:g.74688A>G , LRG_473:g.74688A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.143A>G
ENST00000353578.9:c.6880A>G	ENSP00000315873.4:p.Lys2294Glu
ENST00000295550.9:c.7498A>G MANE Select	ENSP00000295550.4:p.Lys2500Glu
ENST00000295550.8:c.7498A>G	ENSP00000295550.4:p.Lys2500Glu
ENST00000347401.7:c.5674A>G	ENSP00000315609.4:p.Lys1892Glu
ENST00000353578.8:c.6880A>G	ENSP00000315873.4:p.Lys2294Glu
ENST00000409809.5:c.6880A>G	ENSP00000386844.1:p.Lys2294Glu
ENST00000472056.5:c.5677A>G	ENSP00000418285.1:p.Lys1893Glu
ENST00000491769.1:n.1752A>G
NM_004369.3:c.7498A>G , LRG_473t1:c.7498A>G	NP_004360.2:p.Lys2500Glu
NM_057166.4:c.5677A>G	NP_476507.3:p.Lys1893Glu
NM_057167.3:c.6880A>G	NP_476508.2:p.Lys2294Glu
XM_005246065.1:c.6898A>G	XP_005246122.1:p.Lys2300Glu
XM_005246066.1:c.6277A>G	XP_005246123.1:p.Lys2093Glu
XM_006712253.1:c.6997A>G	XP_006712316.1:p.Lys2333Glu
XM_011510574.1:c.7495A>G	XP_011508876.1:p.Lys2499Glu
XM_011510575.1:c.5092A>G	XP_011508877.1:p.Lys1698Glu
XM_017003304.1:c.5092A>G	XP_016858793.1:p.Lys1698Glu
XM_024452684.1:c.6277A>G	XP_024308452.1:p.Lys2093Glu
NM_004369.4:c.7498A>G MANE Select	NP_004360.2:p.Lys2500Glu
NM_057166.5:c.5677A>G	NP_476507.3:p.Lys1893Glu
NM_057167.4:c.6880A>G	NP_476508.2:p.Lys2294Glu