Canonical Allele Identifier: CA351194752

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238249160T>A (hg19) ; chr2:g.237340517T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237340517T>A , CM000664.2:g.237340517T>A	GRCh38
NC_000002.11:g.238249160T>A , CM000664.1:g.238249160T>A	GRCh37
NC_000002.10:g.237913899T>A	NCBI36
NG_008676.1:g.78691A>T , LRG_473:g.78691A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1044A>T
ENST00000353578.9:c.7781A>T	ENSP00000315873.4:p.Lys2594Met
ENST00000682957.1:c.402A>T
ENST00000684508.1:n.666A>T
ENST00000295550.9:c.8399A>T MANE Select	ENSP00000295550.4:p.Lys2800Met
ENST00000295550.8:c.8399A>T	ENSP00000295550.4:p.Lys2800Met
ENST00000347401.7:c.6575A>T	ENSP00000315609.4:p.Lys2192Met
ENST00000353578.8:c.7781A>T	ENSP00000315873.4:p.Lys2594Met
ENST00000409809.5:c.7781A>T	ENSP00000386844.1:p.Lys2594Met
ENST00000468792.1:n.86A>T
ENST00000472056.5:c.6578A>T	ENSP00000418285.1:p.Lys2193Met
ENST00000491769.1:n.4841A>T
NM_004369.3:c.8399A>T , LRG_473t1:c.8399A>T	NP_004360.2:p.Lys2800Met
NM_057166.4:c.6578A>T	NP_476507.3:p.Lys2193Met
NM_057167.3:c.7781A>T	NP_476508.2:p.Lys2594Met
XM_005246065.1:c.7799A>T	XP_005246122.1:p.Lys2600Met
XM_005246066.1:c.7178A>T	XP_005246123.1:p.Lys2393Met
XM_006712253.1:c.7898A>T	XP_006712316.1:p.Lys2633Met
XM_011510574.1:c.8396A>T	XP_011508876.1:p.Lys2799Met
XM_011510575.1:c.5993A>T	XP_011508877.1:p.Lys1998Met
XM_017003304.1:c.5993A>T	XP_016858793.1:p.Lys1998Met
XM_024452684.1:c.7178A>T	XP_024308452.1:p.Lys2393Met
NM_004369.4:c.8399A>T MANE Select	NP_004360.2:p.Lys2800Met
NM_057166.5:c.6578A>T	NP_476507.3:p.Lys2193Met
NM_057167.4:c.7781A>T	NP_476508.2:p.Lys2594Met