Canonical Allele Identifier: CA351194291

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238249112A>T (hg19) ; chr2:g.237340469A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237340469A>T , CM000664.2:g.237340469A>T	GRCh38
NC_000002.11:g.238249112A>T , CM000664.1:g.238249112A>T	GRCh37
NC_000002.10:g.237913851A>T	NCBI36
NG_008676.1:g.78739T>A , LRG_473:g.78739T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1092T>A
ENST00000353578.9:c.7829T>A	ENSP00000315873.4:p.Leu2610Ter
ENST00000682957.1:c.450T>A
ENST00000684508.1:n.714T>A
ENST00000295550.9:c.8447T>A MANE Select	ENSP00000295550.4:p.Leu2816Ter
ENST00000295550.8:c.8447T>A	ENSP00000295550.4:p.Leu2816Ter
ENST00000347401.7:c.6623T>A	ENSP00000315609.4:p.Leu2208Ter
ENST00000353578.8:c.7829T>A	ENSP00000315873.4:p.Leu2610Ter
ENST00000409809.5:c.7829T>A	ENSP00000386844.1:p.Leu2610Ter
ENST00000468792.1:n.134T>A
ENST00000472056.5:c.6626T>A	ENSP00000418285.1:p.Leu2209Ter
ENST00000491769.1:n.4889T>A
NM_004369.3:c.8447T>A , LRG_473t1:c.8447T>A	NP_004360.2:p.Leu2816Ter
NM_057166.4:c.6626T>A	NP_476507.3:p.Leu2209Ter
NM_057167.3:c.7829T>A	NP_476508.2:p.Leu2610Ter
XM_005246065.1:c.7847T>A	XP_005246122.1:p.Leu2616Ter
XM_005246066.1:c.7226T>A	XP_005246123.1:p.Leu2409Ter
XM_006712253.1:c.7946T>A	XP_006712316.1:p.Leu2649Ter
XM_011510574.1:c.8444T>A	XP_011508876.1:p.Leu2815Ter
XM_011510575.1:c.6041T>A	XP_011508877.1:p.Leu2014Ter
XM_017003304.1:c.6041T>A	XP_016858793.1:p.Leu2014Ter
XM_024452684.1:c.7226T>A	XP_024308452.1:p.Leu2409Ter
NM_004369.4:c.8447T>A MANE Select	NP_004360.2:p.Leu2816Ter
NM_057166.5:c.6626T>A	NP_476507.3:p.Leu2209Ter
NM_057167.4:c.7829T>A	NP_476508.2:p.Leu2610Ter