Canonical Allele Identifier: CA431710627

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238275562C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237366919C>T , CM000664.2:g.237366919C>T	GRCh38
NC_000002.11:g.238275562C>T , CM000664.1:g.238275562C>T	GRCh37
NC_000002.10:g.237940301C>T	NCBI36
NG_008676.1:g.52289G>A , LRG_473:g.52289G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000353578.9:c.4650G>A	ENSP00000315873.4:p.Val1550=
ENST00000295550.9:c.5268G>A MANE Select	ENSP00000295550.4:p.Val1756=
ENST00000295550.8:c.5268G>A	ENSP00000295550.4:p.Val1756=
ENST00000347401.7:c.3447G>A	ENSP00000315609.4:p.Val1149=
ENST00000353578.8:c.4650G>A	ENSP00000315873.4:p.Val1550=
ENST00000409809.5:c.4650G>A	ENSP00000386844.1:p.Val1550=
ENST00000472056.5:c.3447G>A	ENSP00000418285.1:p.Val1149=
NM_004369.3:c.5268G>A , LRG_473t1:c.5268G>A	NP_004360.2:p.Val1756=
NM_057166.4:c.3447G>A	NP_476507.3:p.Val1149=
NM_057167.3:c.4650G>A	NP_476508.2:p.Val1550=
XM_005246065.1:c.4668G>A	XP_005246122.1:p.Val1556=
XM_005246066.1:c.4047G>A	XP_005246123.1:p.Val1349=
XM_006712253.1:c.4767G>A	XP_006712316.1:p.Val1589=
XM_011510574.1:c.5265G>A	XP_011508876.1:p.Val1755=
XM_011510575.1:c.2862G>A	XP_011508877.1:p.Val954=
XM_017003304.1:c.2862G>A	XP_016858793.1:p.Val954=
XM_024452684.1:c.4047G>A	XP_024308452.1:p.Val1349=
NM_004369.4:c.5268G>A MANE Select	NP_004360.2:p.Val1756=
NM_057166.5:c.3447G>A	NP_476507.3:p.Val1149=
NM_057167.4:c.4650G>A	NP_476508.2:p.Val1550=