Canonical Allele Identifier: CA351191024

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238244822G>A (hg19) ; chr2:g.237336179G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1566C>T
ENST00000353578.9:c.8303C>T	ENSP00000315873.4:p.Ala2768Val
ENST00000682957.1:c.1048C>T
ENST00000684508.1:n.1188C>T
ENST00000295550.9:c.8921C>T MANE Select	ENSP00000295550.4:p.Ala2974Val
ENST00000295550.8:c.8921C>T	ENSP00000295550.4:p.Ala2974Val
ENST00000347401.7:c.7097C>T	ENSP00000315609.4:p.Ala2366Val
ENST00000353578.8:c.8303C>T	ENSP00000315873.4:p.Ala2768Val
ENST00000409809.5:c.8303C>T	ENSP00000386844.1:p.Ala2768Val
ENST00000472056.5:c.7100C>T	ENSP00000418285.1:p.Ala2367Val
ENST00000491769.1:n.5363C>T
NM_004369.3:c.8921C>T , LRG_473t1:c.8921C>T	NP_004360.2:p.Ala2974Val
NM_057166.4:c.7100C>T	NP_476507.3:p.Ala2367Val
NM_057167.3:c.8303C>T	NP_476508.2:p.Ala2768Val
XM_005246065.1:c.8321C>T	XP_005246122.1:p.Ala2774Val
XM_005246066.1:c.7700C>T	XP_005246123.1:p.Ala2567Val
XM_006712253.1:c.8420C>T	XP_006712316.1:p.Ala2807Val
XM_011510574.1:c.8918C>T	XP_011508876.1:p.Ala2973Val
XM_011510575.1:c.6515C>T	XP_011508877.1:p.Ala2172Val
XM_017003304.1:c.6515C>T	XP_016858793.1:p.Ala2172Val
XM_024452684.1:c.7700C>T	XP_024308452.1:p.Ala2567Val
NM_004369.4:c.8921C>T MANE Select	NP_004360.2:p.Ala2974Val
NM_057166.5:c.7100C>T	NP_476507.3:p.Ala2367Val
NM_057167.4:c.8303C>T	NP_476508.2:p.Ala2768Val