Canonical Allele Identifier: CA351195130

Gene: COL6A3

Linked Data

• ClinVar Variation Id: 1698591
• ClinVar RCV Id: RCV002271868
• dbSNP Id: rs2076965280
• MyVariant Identifiers: chr2:g.238249218T>C (hg19) ; chr2:g.237340575T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237340575T>C , CM000664.2:g.237340575T>C	GRCh38
NC_000002.11:g.238249218T>C , CM000664.1:g.238249218T>C	GRCh37
NC_000002.10:g.237913957T>C	NCBI36
NG_008676.1:g.78633A>G , LRG_473:g.78633A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.986A>G
ENST00000353578.9:c.7723A>G	ENSP00000315873.4:p.Lys2575Glu
ENST00000682957.1:c.344A>G
ENST00000684508.1:n.608A>G
ENST00000295550.9:c.8341A>G MANE Select	ENSP00000295550.4:p.Lys2781Glu
ENST00000295550.8:c.8341A>G	ENSP00000295550.4:p.Lys2781Glu
ENST00000347401.7:c.6517A>G	ENSP00000315609.4:p.Lys2173Glu
ENST00000353578.8:c.7723A>G	ENSP00000315873.4:p.Lys2575Glu
ENST00000409809.5:c.7723A>G	ENSP00000386844.1:p.Lys2575Glu
ENST00000468792.1:n.28A>G
ENST00000472056.5:c.6520A>G	ENSP00000418285.1:p.Lys2174Glu
ENST00000491769.1:n.4783A>G
NM_004369.3:c.8341A>G , LRG_473t1:c.8341A>G	NP_004360.2:p.Lys2781Glu
NM_057166.4:c.6520A>G	NP_476507.3:p.Lys2174Glu
NM_057167.3:c.7723A>G	NP_476508.2:p.Lys2575Glu
XM_005246065.1:c.7741A>G	XP_005246122.1:p.Lys2581Glu
XM_005246066.1:c.7120A>G	XP_005246123.1:p.Lys2374Glu
XM_006712253.1:c.7840A>G	XP_006712316.1:p.Lys2614Glu
XM_011510574.1:c.8338A>G	XP_011508876.1:p.Lys2780Glu
XM_011510575.1:c.5935A>G	XP_011508877.1:p.Lys1979Glu
XM_017003304.1:c.5935A>G	XP_016858793.1:p.Lys1979Glu
XM_024452684.1:c.7120A>G	XP_024308452.1:p.Lys2374Glu
NM_004369.4:c.8341A>G MANE Select	NP_004360.2:p.Lys2781Glu
NM_057166.5:c.6520A>G	NP_476507.3:p.Lys2174Glu
NM_057167.4:c.7723A>G	NP_476508.2:p.Lys2575Glu