Canonical Allele Identifier: CA351201642

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238253022C>A (hg19) ; chr2:g.237344379C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237344379C>A , CM000664.2:g.237344379C>A	GRCh38
NC_000002.11:g.238253022C>A , CM000664.1:g.238253022C>A	GRCh37
NC_000002.10:g.237917761C>A	NCBI36
NG_008676.1:g.74829G>T , LRG_473:g.74829G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.284G>T
ENST00000353578.9:c.7021G>T	ENSP00000315873.4:p.Glu2341Ter
ENST00000295550.9:c.7639G>T MANE Select	ENSP00000295550.4:p.Glu2547Ter
ENST00000295550.8:c.7639G>T	ENSP00000295550.4:p.Glu2547Ter
ENST00000347401.7:c.5815G>T	ENSP00000315609.4:p.Glu1939Ter
ENST00000353578.8:c.7021G>T	ENSP00000315873.4:p.Glu2341Ter
ENST00000409809.5:c.7021G>T	ENSP00000386844.1:p.Glu2341Ter
ENST00000472056.5:c.5818G>T	ENSP00000418285.1:p.Glu1940Ter
ENST00000491769.1:n.1893G>T
NM_004369.3:c.7639G>T , LRG_473t1:c.7639G>T	NP_004360.2:p.Glu2547Ter
NM_057166.4:c.5818G>T	NP_476507.3:p.Glu1940Ter
NM_057167.3:c.7021G>T	NP_476508.2:p.Glu2341Ter
XM_005246065.1:c.7039G>T	XP_005246122.1:p.Glu2347Ter
XM_005246066.1:c.6418G>T	XP_005246123.1:p.Glu2140Ter
XM_006712253.1:c.7138G>T	XP_006712316.1:p.Glu2380Ter
XM_011510574.1:c.7636G>T	XP_011508876.1:p.Glu2546Ter
XM_011510575.1:c.5233G>T	XP_011508877.1:p.Glu1745Ter
XM_017003304.1:c.5233G>T	XP_016858793.1:p.Glu1745Ter
XM_024452684.1:c.6418G>T	XP_024308452.1:p.Glu2140Ter
NM_004369.4:c.7639G>T MANE Select	NP_004360.2:p.Glu2547Ter
NM_057166.5:c.5818G>T	NP_476507.3:p.Glu1940Ter
NM_057167.4:c.7021G>T	NP_476508.2:p.Glu2341Ter