Canonical Allele Identifier: CA351209146

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238258811G>T (hg19) ; chr2:g.237350168G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237350168G>T , CM000664.2:g.237350168G>T	GRCh38
NC_000002.11:g.238258811G>T , CM000664.1:g.238258811G>T	GRCh37
NC_000002.10:g.237923550G>T	NCBI36
NG_008676.1:g.69040C>A , LRG_473:g.69040C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000353578.9:c.6240C>A	ENSP00000315873.4:p.Asn2080Lys
ENST00000295550.9:c.6858C>A MANE Select	ENSP00000295550.4:p.Asn2286Lys
ENST00000295550.8:c.6858C>A	ENSP00000295550.4:p.Asn2286Lys
ENST00000347401.7:c.5037C>A	ENSP00000315609.4:p.Asn1679Lys
ENST00000353578.8:c.6240C>A	ENSP00000315873.4:p.Asn2080Lys
ENST00000409809.5:c.6240C>A	ENSP00000386844.1:p.Asn2080Lys
ENST00000472056.5:c.5037C>A	ENSP00000418285.1:p.Asn1679Lys
ENST00000491769.1:n.1112C>A
NM_004369.3:c.6858C>A , LRG_473t1:c.6858C>A	NP_004360.2:p.Asn2286Lys
NM_057166.4:c.5037C>A	NP_476507.3:p.Asn1679Lys
NM_057167.3:c.6240C>A	NP_476508.2:p.Asn2080Lys
XM_005246065.1:c.6258C>A	XP_005246122.1:p.Asn2086Lys
XM_005246066.1:c.5637C>A	XP_005246123.1:p.Asn1879Lys
XM_006712253.1:c.6357C>A	XP_006712316.1:p.Asn2119Lys
XM_011510574.1:c.6855C>A	XP_011508876.1:p.Asn2285Lys
XM_011510575.1:c.4452C>A	XP_011508877.1:p.Asn1484Lys
XM_017003304.1:c.4452C>A	XP_016858793.1:p.Asn1484Lys
XM_024452684.1:c.5637C>A	XP_024308452.1:p.Asn1879Lys
NM_004369.4:c.6858C>A MANE Select	NP_004360.2:p.Asn2286Lys
NM_057166.5:c.5037C>A	NP_476507.3:p.Asn1679Lys
NM_057167.4:c.6240C>A	NP_476508.2:p.Asn2080Lys