Canonical Allele Identifier: CA351215974

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238267857C>A (hg19) ; chr2:g.237359214C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237359214C>A , CM000664.2:g.237359214C>A	GRCh38
NC_000002.11:g.238267857C>A , CM000664.1:g.238267857C>A	GRCh37
NC_000002.10:g.237932596C>A	NCBI36
NG_008676.1:g.59994G>T , LRG_473:g.59994G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000353578.9:c.5728G>T	ENSP00000315873.4:p.Gly1910Cys
ENST00000295550.9:c.6346G>T MANE Select	ENSP00000295550.4:p.Gly2116Cys
ENST00000295550.8:c.6346G>T	ENSP00000295550.4:p.Gly2116Cys
ENST00000347401.7:c.4525G>T	ENSP00000315609.4:p.Gly1509Cys
ENST00000353578.8:c.5728G>T	ENSP00000315873.4:p.Gly1910Cys
ENST00000409809.5:c.5728G>T	ENSP00000386844.1:p.Gly1910Cys
ENST00000472056.5:c.4525G>T	ENSP00000418285.1:p.Gly1509Cys
NM_004369.3:c.6346G>T , LRG_473t1:c.6346G>T	NP_004360.2:p.Gly2116Cys
NM_057166.4:c.4525G>T	NP_476507.3:p.Gly1509Cys
NM_057167.3:c.5728G>T	NP_476508.2:p.Gly1910Cys
XM_005246065.1:c.5746G>T	XP_005246122.1:p.Gly1916Cys
XM_005246066.1:c.5125G>T	XP_005246123.1:p.Gly1709Cys
XM_006712253.1:c.5845G>T	XP_006712316.1:p.Gly1949Cys
XM_011510574.1:c.6343G>T	XP_011508876.1:p.Gly2115Cys
XM_011510575.1:c.3940G>T	XP_011508877.1:p.Gly1314Cys
XM_017003304.1:c.3940G>T	XP_016858793.1:p.Gly1314Cys
XM_024452684.1:c.5125G>T	XP_024308452.1:p.Gly1709Cys
NM_004369.4:c.6346G>T MANE Select	NP_004360.2:p.Gly2116Cys
NM_057166.5:c.4525G>T	NP_476507.3:p.Gly1509Cys
NM_057167.4:c.5728G>T	NP_476508.2:p.Gly1910Cys