Canonical Allele Identifier: CA351202644

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238253170G>T (hg19) ; chr2:g.237344527G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237344527G>T , CM000664.2:g.237344527G>T	GRCh38
NC_000002.11:g.238253170G>T , CM000664.1:g.238253170G>T	GRCh37
NC_000002.10:g.237917909G>T	NCBI36
NG_008676.1:g.74681C>A , LRG_473:g.74681C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000347401.8:c.136C>A
ENST00000353578.9:c.6873C>A	ENSP00000315873.4:p.Asn2291Lys
ENST00000295550.9:c.7491C>A MANE Select	ENSP00000295550.4:p.Asn2497Lys
ENST00000295550.8:c.7491C>A	ENSP00000295550.4:p.Asn2497Lys
ENST00000347401.7:c.5667C>A	ENSP00000315609.4:p.Asn1889Lys
ENST00000353578.8:c.6873C>A	ENSP00000315873.4:p.Asn2291Lys
ENST00000409809.5:c.6873C>A	ENSP00000386844.1:p.Asn2291Lys
ENST00000472056.5:c.5670C>A	ENSP00000418285.1:p.Asn1890Lys
ENST00000491769.1:n.1745C>A
NM_004369.3:c.7491C>A , LRG_473t1:c.7491C>A	NP_004360.2:p.Asn2497Lys
NM_057166.4:c.5670C>A	NP_476507.3:p.Asn1890Lys
NM_057167.3:c.6873C>A	NP_476508.2:p.Asn2291Lys
XM_005246065.1:c.6891C>A	XP_005246122.1:p.Asn2297Lys
XM_005246066.1:c.6270C>A	XP_005246123.1:p.Asn2090Lys
XM_006712253.1:c.6990C>A	XP_006712316.1:p.Asn2330Lys
XM_011510574.1:c.7488C>A	XP_011508876.1:p.Asn2496Lys
XM_011510575.1:c.5085C>A	XP_011508877.1:p.Asn1695Lys
XM_017003304.1:c.5085C>A	XP_016858793.1:p.Asn1695Lys
XM_024452684.1:c.6270C>A	XP_024308452.1:p.Asn2090Lys
NM_004369.4:c.7491C>A MANE Select	NP_004360.2:p.Asn2497Lys
NM_057166.5:c.5670C>A	NP_476507.3:p.Asn1890Lys
NM_057167.4:c.6873C>A	NP_476508.2:p.Asn2291Lys