Canonical Allele Identifier: CA2187759

Gene: COL6A3

Linked Data

• dbSNP Id: rs752181057
• ExAC: 2:238253019 C / T
• gnomAD v2: 2-238253019-C-T
• gnomAD v4: 2-237344376-C-T
• MyVariant Identifiers: chr2:g.238253019C>T (hg19) ; chr2:g.237344376C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237344376C>T , CM000664.2:g.237344376C>T	GRCh38
NC_000002.11:g.238253019C>T , CM000664.1:g.238253019C>T	GRCh37
NC_000002.10:g.237917758C>T	NCBI36
NG_008676.1:g.74832G>A , LRG_473:g.74832G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.287G>A
ENST00000353578.9:c.7024G>A	ENSP00000315873.4:p.Asp2342Asn
ENST00000295550.9:c.7642G>A MANE Select	ENSP00000295550.4:p.Asp2548Asn
ENST00000295550.8:c.7642G>A	ENSP00000295550.4:p.Asp2548Asn
ENST00000347401.7:c.5818G>A	ENSP00000315609.4:p.Asp1940Asn
ENST00000353578.8:c.7024G>A	ENSP00000315873.4:p.Asp2342Asn
ENST00000409809.5:c.7024G>A	ENSP00000386844.1:p.Asp2342Asn
ENST00000472056.5:c.5821G>A	ENSP00000418285.1:p.Asp1941Asn
ENST00000491769.1:n.1896G>A
NM_004369.3:c.7642G>A , LRG_473t1:c.7642G>A	NP_004360.2:p.Asp2548Asn
NM_057166.4:c.5821G>A	NP_476507.3:p.Asp1941Asn
NM_057167.3:c.7024G>A	NP_476508.2:p.Asp2342Asn
XM_005246065.1:c.7042G>A	XP_005246122.1:p.Asp2348Asn
XM_005246066.1:c.6421G>A	XP_005246123.1:p.Asp2141Asn
XM_006712253.1:c.7141G>A	XP_006712316.1:p.Asp2381Asn
XM_011510574.1:c.7639G>A	XP_011508876.1:p.Asp2547Asn
XM_011510575.1:c.5236G>A	XP_011508877.1:p.Asp1746Asn
XM_017003304.1:c.5236G>A	XP_016858793.1:p.Asp1746Asn
XM_024452684.1:c.6421G>A	XP_024308452.1:p.Asp2141Asn
NM_004369.4:c.7642G>A MANE Select	NP_004360.2:p.Asp2548Asn
NM_057166.5:c.5821G>A	NP_476507.3:p.Asp1941Asn
NM_057167.4:c.7024G>A	NP_476508.2:p.Asp2342Asn