Canonical Allele Identifier: CA351195012

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238249197T>A (hg19) ; chr2:g.237340554T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237340554T>A , CM000664.2:g.237340554T>A	GRCh38
NC_000002.11:g.238249197T>A , CM000664.1:g.238249197T>A	GRCh37
NC_000002.10:g.237913936T>A	NCBI36
NG_008676.1:g.78654A>T , LRG_473:g.78654A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1007A>T
ENST00000353578.9:c.7744A>T	ENSP00000315873.4:p.Ser2582Cys
ENST00000682957.1:c.365A>T
ENST00000684508.1:n.629A>T
ENST00000295550.9:c.8362A>T MANE Select	ENSP00000295550.4:p.Ser2788Cys
ENST00000295550.8:c.8362A>T	ENSP00000295550.4:p.Ser2788Cys
ENST00000347401.7:c.6538A>T	ENSP00000315609.4:p.Ser2180Cys
ENST00000353578.8:c.7744A>T	ENSP00000315873.4:p.Ser2582Cys
ENST00000409809.5:c.7744A>T	ENSP00000386844.1:p.Ser2582Cys
ENST00000468792.1:n.49A>T
ENST00000472056.5:c.6541A>T	ENSP00000418285.1:p.Ser2181Cys
ENST00000491769.1:n.4804A>T
NM_004369.3:c.8362A>T , LRG_473t1:c.8362A>T	NP_004360.2:p.Ser2788Cys
NM_057166.4:c.6541A>T	NP_476507.3:p.Ser2181Cys
NM_057167.3:c.7744A>T	NP_476508.2:p.Ser2582Cys
XM_005246065.1:c.7762A>T	XP_005246122.1:p.Ser2588Cys
XM_005246066.1:c.7141A>T	XP_005246123.1:p.Ser2381Cys
XM_006712253.1:c.7861A>T	XP_006712316.1:p.Ser2621Cys
XM_011510574.1:c.8359A>T	XP_011508876.1:p.Ser2787Cys
XM_011510575.1:c.5956A>T	XP_011508877.1:p.Ser1986Cys
XM_017003304.1:c.5956A>T	XP_016858793.1:p.Ser1986Cys
XM_024452684.1:c.7141A>T	XP_024308452.1:p.Ser2381Cys
NM_004369.4:c.8362A>T MANE Select	NP_004360.2:p.Ser2788Cys
NM_057166.5:c.6541A>T	NP_476507.3:p.Ser2181Cys
NM_057167.4:c.7744A>T	NP_476508.2:p.Ser2582Cys