Canonical Allele Identifier: CA431701875

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238249246G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237340603G>A , CM000664.2:g.237340603G>A	GRCh38
NC_000002.11:g.238249246G>A , CM000664.1:g.238249246G>A	GRCh37
NC_000002.10:g.237913985G>A	NCBI36
NG_008676.1:g.78605C>T , LRG_473:g.78605C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.958C>T
ENST00000353578.9:c.7695C>T	ENSP00000315873.4:p.Val2565=
ENST00000682957.1:c.316C>T
ENST00000684508.1:n.580C>T
ENST00000295550.9:c.8313C>T MANE Select	ENSP00000295550.4:p.Val2771=
ENST00000295550.8:c.8313C>T	ENSP00000295550.4:p.Val2771=
ENST00000347401.7:c.6489C>T	ENSP00000315609.4:p.Val2163=
ENST00000353578.8:c.7695C>T	ENSP00000315873.4:p.Val2565=
ENST00000409809.5:c.7695C>T	ENSP00000386844.1:p.Val2565=
ENST00000472056.5:c.6492C>T	ENSP00000418285.1:p.Val2164=
ENST00000491769.1:n.4755C>T
NM_004369.3:c.8313C>T , LRG_473t1:c.8313C>T	NP_004360.2:p.Val2771=
NM_057166.4:c.6492C>T	NP_476507.3:p.Val2164=
NM_057167.3:c.7695C>T	NP_476508.2:p.Val2565=
XM_005246065.1:c.7713C>T	XP_005246122.1:p.Val2571=
XM_005246066.1:c.7092C>T	XP_005246123.1:p.Val2364=
XM_006712253.1:c.7812C>T	XP_006712316.1:p.Val2604=
XM_011510574.1:c.8310C>T	XP_011508876.1:p.Val2770=
XM_011510575.1:c.5907C>T	XP_011508877.1:p.Val1969=
XM_017003304.1:c.5907C>T	XP_016858793.1:p.Val1969=
XM_024452684.1:c.7092C>T	XP_024308452.1:p.Val2364=
NM_004369.4:c.8313C>T MANE Select	NP_004360.2:p.Val2771=
NM_057166.5:c.6492C>T	NP_476507.3:p.Val2164=
NM_057167.4:c.7695C>T	NP_476508.2:p.Val2565=