Canonical Allele Identifier: CA351202919

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238253211G>T (hg19) ; chr2:g.237344568G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237344568G>T , CM000664.2:g.237344568G>T	GRCh38
NC_000002.11:g.238253211G>T , CM000664.1:g.238253211G>T	GRCh37
NC_000002.10:g.237917950G>T	NCBI36
NG_008676.1:g.74640C>A , LRG_473:g.74640C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.95C>A
ENST00000353578.9:c.6832C>A	ENSP00000315873.4:p.Gln2278Lys
ENST00000295550.9:c.7450C>A MANE Select	ENSP00000295550.4:p.Gln2484Lys
ENST00000295550.8:c.7450C>A	ENSP00000295550.4:p.Gln2484Lys
ENST00000347401.7:c.5626C>A	ENSP00000315609.4:p.Gln1876Lys
ENST00000353578.8:c.6832C>A	ENSP00000315873.4:p.Gln2278Lys
ENST00000409809.5:c.6832C>A	ENSP00000386844.1:p.Gln2278Lys
ENST00000472056.5:c.5629C>A	ENSP00000418285.1:p.Gln1877Lys
ENST00000491769.1:n.1704C>A
NM_004369.3:c.7450C>A , LRG_473t1:c.7450C>A	NP_004360.2:p.Gln2484Lys
NM_057166.4:c.5629C>A	NP_476507.3:p.Gln1877Lys
NM_057167.3:c.6832C>A	NP_476508.2:p.Gln2278Lys
XM_005246065.1:c.6850C>A	XP_005246122.1:p.Gln2284Lys
XM_005246066.1:c.6229C>A	XP_005246123.1:p.Gln2077Lys
XM_006712253.1:c.6949C>A	XP_006712316.1:p.Gln2317Lys
XM_011510574.1:c.7447C>A	XP_011508876.1:p.Gln2483Lys
XM_011510575.1:c.5044C>A	XP_011508877.1:p.Gln1682Lys
XM_017003304.1:c.5044C>A	XP_016858793.1:p.Gln1682Lys
XM_024452684.1:c.6229C>A	XP_024308452.1:p.Gln2077Lys
NM_004369.4:c.7450C>A MANE Select	NP_004360.2:p.Gln2484Lys
NM_057166.5:c.5629C>A	NP_476507.3:p.Gln1877Lys
NM_057167.4:c.6832C>A	NP_476508.2:p.Gln2278Lys