Canonical Allele Identifier: CA351191021

Gene: COL6A3

Linked Data

• gnomAD v4: 2-237336179-G-T
• MyVariant Identifiers: chr2:g.238244822G>T (hg19) ; chr2:g.237336179G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336179G>T , CM000664.2:g.237336179G>T	GRCh38
NC_000002.11:g.238244822G>T , CM000664.1:g.238244822G>T	GRCh37
NC_000002.10:g.237909561G>T	NCBI36
NG_008676.1:g.83029C>A , LRG_473:g.83029C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1566C>A
ENST00000353578.9:c.8303C>A	ENSP00000315873.4:p.Ala2768Glu
ENST00000682957.1:c.1048C>A
ENST00000684508.1:n.1188C>A
ENST00000295550.9:c.8921C>A MANE Select	ENSP00000295550.4:p.Ala2974Glu
ENST00000295550.8:c.8921C>A	ENSP00000295550.4:p.Ala2974Glu
ENST00000347401.7:c.7097C>A	ENSP00000315609.4:p.Ala2366Glu
ENST00000353578.8:c.8303C>A	ENSP00000315873.4:p.Ala2768Glu
ENST00000409809.5:c.8303C>A	ENSP00000386844.1:p.Ala2768Glu
ENST00000472056.5:c.7100C>A	ENSP00000418285.1:p.Ala2367Glu
ENST00000491769.1:n.5363C>A
NM_004369.3:c.8921C>A , LRG_473t1:c.8921C>A	NP_004360.2:p.Ala2974Glu
NM_057166.4:c.7100C>A	NP_476507.3:p.Ala2367Glu
NM_057167.3:c.8303C>A	NP_476508.2:p.Ala2768Glu
XM_005246065.1:c.8321C>A	XP_005246122.1:p.Ala2774Glu
XM_005246066.1:c.7700C>A	XP_005246123.1:p.Ala2567Glu
XM_006712253.1:c.8420C>A	XP_006712316.1:p.Ala2807Glu
XM_011510574.1:c.8918C>A	XP_011508876.1:p.Ala2973Glu
XM_011510575.1:c.6515C>A	XP_011508877.1:p.Ala2172Glu
XM_017003304.1:c.6515C>A	XP_016858793.1:p.Ala2172Glu
XM_024452684.1:c.7700C>A	XP_024308452.1:p.Ala2567Glu
NM_004369.4:c.8921C>A MANE Select	NP_004360.2:p.Ala2974Glu
NM_057166.5:c.7100C>A	NP_476507.3:p.Ala2367Glu
NM_057167.4:c.8303C>A	NP_476508.2:p.Ala2768Glu