Canonical Allele Identifier: CA431674928

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238245145A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336502A>T , CM000664.2:g.237336502A>T	GRCh38
NC_000002.11:g.238245145A>T , CM000664.1:g.238245145A>T	GRCh37
NC_000002.10:g.237909884A>T	NCBI36
NG_008676.1:g.82706T>A , LRG_473:g.82706T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1243T>A
ENST00000353578.9:c.7980T>A	ENSP00000315873.4:p.Pro2660=
ENST00000682957.1:c.725T>A
ENST00000684508.1:n.865T>A
ENST00000295550.9:c.8598T>A MANE Select	ENSP00000295550.4:p.Pro2866=
ENST00000295550.8:c.8598T>A	ENSP00000295550.4:p.Pro2866=
ENST00000347401.7:c.6774T>A	ENSP00000315609.4:p.Pro2258=
ENST00000353578.8:c.7980T>A	ENSP00000315873.4:p.Pro2660=
ENST00000409809.5:c.7980T>A	ENSP00000386844.1:p.Pro2660=
ENST00000472056.5:c.6777T>A	ENSP00000418285.1:p.Pro2259=
ENST00000491769.1:n.5040T>A
NM_004369.3:c.8598T>A , LRG_473t1:c.8598T>A	NP_004360.2:p.Pro2866=
NM_057166.4:c.6777T>A	NP_476507.3:p.Pro2259=
NM_057167.3:c.7980T>A	NP_476508.2:p.Pro2660=
XM_005246065.1:c.7998T>A	XP_005246122.1:p.Pro2666=
XM_005246066.1:c.7377T>A	XP_005246123.1:p.Pro2459=
XM_006712253.1:c.8097T>A	XP_006712316.1:p.Pro2699=
XM_011510574.1:c.8595T>A	XP_011508876.1:p.Pro2865=
XM_011510575.1:c.6192T>A	XP_011508877.1:p.Pro2064=
XM_017003304.1:c.6192T>A	XP_016858793.1:p.Pro2064=
XM_024452684.1:c.7377T>A	XP_024308452.1:p.Pro2459=
NM_004369.4:c.8598T>A MANE Select	NP_004360.2:p.Pro2866=
NM_057166.5:c.6777T>A	NP_476507.3:p.Pro2259=
NM_057167.4:c.7980T>A	NP_476508.2:p.Pro2660=