Canonical Allele Identifier: CA351215970

Gene: COL6A3

Linked Data

• gnomAD v4: 2-237359211-C-T
• MyVariant Identifiers: chr2:g.238267854C>T (hg19) ; chr2:g.237359211C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237359211C>T , CM000664.2:g.237359211C>T	GRCh38
NC_000002.11:g.238267854C>T , CM000664.1:g.238267854C>T	GRCh37
NC_000002.10:g.237932593C>T	NCBI36
NG_008676.1:g.59997G>A , LRG_473:g.59997G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353578.9:c.5731G>A	ENSP00000315873.4:p.Glu1911Lys
ENST00000295550.9:c.6349G>A MANE Select	ENSP00000295550.4:p.Glu2117Lys
ENST00000295550.8:c.6349G>A	ENSP00000295550.4:p.Glu2117Lys
ENST00000347401.7:c.4528G>A	ENSP00000315609.4:p.Glu1510Lys
ENST00000353578.8:c.5731G>A	ENSP00000315873.4:p.Glu1911Lys
ENST00000409809.5:c.5731G>A	ENSP00000386844.1:p.Glu1911Lys
ENST00000472056.5:c.4528G>A	ENSP00000418285.1:p.Glu1510Lys
NM_004369.3:c.6349G>A , LRG_473t1:c.6349G>A	NP_004360.2:p.Glu2117Lys
NM_057166.4:c.4528G>A	NP_476507.3:p.Glu1510Lys
NM_057167.3:c.5731G>A	NP_476508.2:p.Glu1911Lys
XM_005246065.1:c.5749G>A	XP_005246122.1:p.Glu1917Lys
XM_005246066.1:c.5128G>A	XP_005246123.1:p.Glu1710Lys
XM_006712253.1:c.5848G>A	XP_006712316.1:p.Glu1950Lys
XM_011510574.1:c.6346G>A	XP_011508876.1:p.Glu2116Lys
XM_011510575.1:c.3943G>A	XP_011508877.1:p.Glu1315Lys
XM_017003304.1:c.3943G>A	XP_016858793.1:p.Glu1315Lys
XM_024452684.1:c.5128G>A	XP_024308452.1:p.Glu1710Lys
NM_004369.4:c.6349G>A MANE Select	NP_004360.2:p.Glu2117Lys
NM_057166.5:c.4528G>A	NP_476507.3:p.Glu1510Lys
NM_057167.4:c.5731G>A	NP_476508.2:p.Glu1911Lys