Canonical Allele Identifier: CA351191829

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238245047A>T (hg19) ; chr2:g.237336404A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336404A>T , CM000664.2:g.237336404A>T	GRCh38
NC_000002.11:g.238245047A>T , CM000664.1:g.238245047A>T	GRCh37
NC_000002.10:g.237909786A>T	NCBI36
NG_008676.1:g.82804T>A , LRG_473:g.82804T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1341T>A
ENST00000353578.9:c.8078T>A	ENSP00000315873.4:p.Ile2693Asn
ENST00000682957.1:c.823T>A
ENST00000684508.1:n.963T>A
ENST00000295550.9:c.8696T>A MANE Select	ENSP00000295550.4:p.Ile2899Asn
ENST00000295550.8:c.8696T>A	ENSP00000295550.4:p.Ile2899Asn
ENST00000347401.7:c.6872T>A	ENSP00000315609.4:p.Ile2291Asn
ENST00000353578.8:c.8078T>A	ENSP00000315873.4:p.Ile2693Asn
ENST00000409809.5:c.8078T>A	ENSP00000386844.1:p.Ile2693Asn
ENST00000472056.5:c.6875T>A	ENSP00000418285.1:p.Ile2292Asn
ENST00000491769.1:n.5138T>A
NM_004369.3:c.8696T>A , LRG_473t1:c.8696T>A	NP_004360.2:p.Ile2899Asn
NM_057166.4:c.6875T>A	NP_476507.3:p.Ile2292Asn
NM_057167.3:c.8078T>A	NP_476508.2:p.Ile2693Asn
XM_005246065.1:c.8096T>A	XP_005246122.1:p.Ile2699Asn
XM_005246066.1:c.7475T>A	XP_005246123.1:p.Ile2492Asn
XM_006712253.1:c.8195T>A	XP_006712316.1:p.Ile2732Asn
XM_011510574.1:c.8693T>A	XP_011508876.1:p.Ile2898Asn
XM_011510575.1:c.6290T>A	XP_011508877.1:p.Ile2097Asn
XM_017003304.1:c.6290T>A	XP_016858793.1:p.Ile2097Asn
XM_024452684.1:c.7475T>A	XP_024308452.1:p.Ile2492Asn
NM_004369.4:c.8696T>A MANE Select	NP_004360.2:p.Ile2899Asn
NM_057166.5:c.6875T>A	NP_476507.3:p.Ile2292Asn
NM_057167.4:c.8078T>A	NP_476508.2:p.Ile2693Asn