Canonical Allele Identifier: CA351187822

Gene: COL6A3

Linked Data

• gnomAD v4: 2-237366913-A-T
• MyVariant Identifiers: chr2:g.238275556A>T (hg19) ; chr2:g.237366913A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237366913A>T , CM000664.2:g.237366913A>T	GRCh38
NC_000002.11:g.238275556A>T , CM000664.1:g.238275556A>T	GRCh37
NC_000002.10:g.237940295A>T	NCBI36
NG_008676.1:g.52295T>A , LRG_473:g.52295T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000353578.9:c.4656T>A	ENSP00000315873.4:p.Asp1552Glu
ENST00000295550.9:c.5274T>A MANE Select	ENSP00000295550.4:p.Asp1758Glu
ENST00000295550.8:c.5274T>A	ENSP00000295550.4:p.Asp1758Glu
ENST00000347401.7:c.3453T>A	ENSP00000315609.4:p.Asp1151Glu
ENST00000353578.8:c.4656T>A	ENSP00000315873.4:p.Asp1552Glu
ENST00000409809.5:c.4656T>A	ENSP00000386844.1:p.Asp1552Glu
ENST00000472056.5:c.3453T>A	ENSP00000418285.1:p.Asp1151Glu
NM_004369.3:c.5274T>A , LRG_473t1:c.5274T>A	NP_004360.2:p.Asp1758Glu
NM_057166.4:c.3453T>A	NP_476507.3:p.Asp1151Glu
NM_057167.3:c.4656T>A	NP_476508.2:p.Asp1552Glu
XM_005246065.1:c.4674T>A	XP_005246122.1:p.Asp1558Glu
XM_005246066.1:c.4053T>A	XP_005246123.1:p.Asp1351Glu
XM_006712253.1:c.4773T>A	XP_006712316.1:p.Asp1591Glu
XM_011510574.1:c.5271T>A	XP_011508876.1:p.Asp1757Glu
XM_011510575.1:c.2868T>A	XP_011508877.1:p.Asp956Glu
XM_017003304.1:c.2868T>A	XP_016858793.1:p.Asp956Glu
XM_024452684.1:c.4053T>A	XP_024308452.1:p.Asp1351Glu
NM_004369.4:c.5274T>A MANE Select	NP_004360.2:p.Asp1758Glu
NM_057166.5:c.3453T>A	NP_476507.3:p.Asp1151Glu
NM_057167.4:c.4656T>A	NP_476508.2:p.Asp1552Glu