Canonical Allele Identifier: CA351202575

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238253162T>A (hg19) ; chr2:g.237344519T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237344519T>A , CM000664.2:g.237344519T>A	GRCh38
NC_000002.11:g.238253162T>A , CM000664.1:g.238253162T>A	GRCh37
NC_000002.10:g.237917901T>A	NCBI36
NG_008676.1:g.74689A>T , LRG_473:g.74689A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.144A>T
ENST00000353578.9:c.6881A>T	ENSP00000315873.4:p.Lys2294Met
ENST00000295550.9:c.7499A>T MANE Select	ENSP00000295550.4:p.Lys2500Met
ENST00000295550.8:c.7499A>T	ENSP00000295550.4:p.Lys2500Met
ENST00000347401.7:c.5675A>T	ENSP00000315609.4:p.Lys1892Met
ENST00000353578.8:c.6881A>T	ENSP00000315873.4:p.Lys2294Met
ENST00000409809.5:c.6881A>T	ENSP00000386844.1:p.Lys2294Met
ENST00000472056.5:c.5678A>T	ENSP00000418285.1:p.Lys1893Met
ENST00000491769.1:n.1753A>T
NM_004369.3:c.7499A>T , LRG_473t1:c.7499A>T	NP_004360.2:p.Lys2500Met
NM_057166.4:c.5678A>T	NP_476507.3:p.Lys1893Met
NM_057167.3:c.6881A>T	NP_476508.2:p.Lys2294Met
XM_005246065.1:c.6899A>T	XP_005246122.1:p.Lys2300Met
XM_005246066.1:c.6278A>T	XP_005246123.1:p.Lys2093Met
XM_006712253.1:c.6998A>T	XP_006712316.1:p.Lys2333Met
XM_011510574.1:c.7496A>T	XP_011508876.1:p.Lys2499Met
XM_011510575.1:c.5093A>T	XP_011508877.1:p.Lys1698Met
XM_017003304.1:c.5093A>T	XP_016858793.1:p.Lys1698Met
XM_024452684.1:c.6278A>T	XP_024308452.1:p.Lys2093Met
NM_004369.4:c.7499A>T MANE Select	NP_004360.2:p.Lys2500Met
NM_057166.5:c.5678A>T	NP_476507.3:p.Lys1893Met
NM_057167.4:c.6881A>T	NP_476508.2:p.Lys2294Met