Canonical Allele Identifier: CA431710094

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238252993C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237344350C>T , CM000664.2:g.237344350C>T	GRCh38
NC_000002.11:g.238252993C>T , CM000664.1:g.238252993C>T	GRCh37
NC_000002.10:g.237917732C>T	NCBI36
NG_008676.1:g.74858G>A , LRG_473:g.74858G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000347401.8:c.313G>A
ENST00000353578.9:c.7050G>A	ENSP00000315873.4:p.Gln2350=
ENST00000295550.9:c.7668G>A MANE Select	ENSP00000295550.4:p.Gln2556=
ENST00000295550.8:c.7668G>A	ENSP00000295550.4:p.Gln2556=
ENST00000347401.7:c.5844G>A	ENSP00000315609.4:p.Gln1948=
ENST00000353578.8:c.7050G>A	ENSP00000315873.4:p.Gln2350=
ENST00000409809.5:c.7050G>A	ENSP00000386844.1:p.Gln2350=
ENST00000472056.5:c.5847G>A	ENSP00000418285.1:p.Gln1949=
ENST00000491769.1:n.1922G>A
NM_004369.3:c.7668G>A , LRG_473t1:c.7668G>A	NP_004360.2:p.Gln2556=
NM_057166.4:c.5847G>A	NP_476507.3:p.Gln1949=
NM_057167.3:c.7050G>A	NP_476508.2:p.Gln2350=
XM_005246065.1:c.7068G>A	XP_005246122.1:p.Gln2356=
XM_005246066.1:c.6447G>A	XP_005246123.1:p.Gln2149=
XM_006712253.1:c.7167G>A	XP_006712316.1:p.Gln2389=
XM_011510574.1:c.7665G>A	XP_011508876.1:p.Gln2555=
XM_011510575.1:c.5262G>A	XP_011508877.1:p.Gln1754=
XM_017003304.1:c.5262G>A	XP_016858793.1:p.Gln1754=
XM_024452684.1:c.6447G>A	XP_024308452.1:p.Gln2149=
NM_004369.4:c.7668G>A MANE Select	NP_004360.2:p.Gln2556=
NM_057166.5:c.5847G>A	NP_476507.3:p.Gln1949=
NM_057167.4:c.7050G>A	NP_476508.2:p.Gln2350=