Canonical Allele Identifier: CA2187452

Gene: COL6A3

Linked Data

• ClinVar Variation Id: 597333
• ClinVar RCV Id: RCV000733409 ; RCV001340091
• dbSNP Id: rs377528704
• ExAC: 2:238245000 C / T
• gnomAD v2: 2-238245000-C-T
• gnomAD v3: 2-237336357-C-T
• gnomAD v4: 2-237336357-C-T
• MyVariant Identifiers: chr2:g.238245000C>T (hg19) ; chr2:g.237336357C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336357C>T , CM000664.2:g.237336357C>T	GRCh38
NC_000002.11:g.238245000C>T , CM000664.1:g.238245000C>T	GRCh37
NC_000002.10:g.237909739C>T	NCBI36
NG_008676.1:g.82851G>A , LRG_473:g.82851G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1388G>A
ENST00000353578.9:c.8125G>A	ENSP00000315873.4:p.Ala2709Thr
ENST00000682957.1:c.870G>A
ENST00000684508.1:n.1010G>A
ENST00000295550.9:c.8743G>A MANE Select	ENSP00000295550.4:p.Ala2915Thr
ENST00000295550.8:c.8743G>A	ENSP00000295550.4:p.Ala2915Thr
ENST00000347401.7:c.6919G>A	ENSP00000315609.4:p.Ala2307Thr
ENST00000353578.8:c.8125G>A	ENSP00000315873.4:p.Ala2709Thr
ENST00000409809.5:c.8125G>A	ENSP00000386844.1:p.Ala2709Thr
ENST00000472056.5:c.6922G>A	ENSP00000418285.1:p.Ala2308Thr
ENST00000491769.1:n.5185G>A
NM_004369.3:c.8743G>A , LRG_473t1:c.8743G>A	NP_004360.2:p.Ala2915Thr
NM_057166.4:c.6922G>A	NP_476507.3:p.Ala2308Thr
NM_057167.3:c.8125G>A	NP_476508.2:p.Ala2709Thr
XM_005246065.1:c.8143G>A	XP_005246122.1:p.Ala2715Thr
XM_005246066.1:c.7522G>A	XP_005246123.1:p.Ala2508Thr
XM_006712253.1:c.8242G>A	XP_006712316.1:p.Ala2748Thr
XM_011510574.1:c.8740G>A	XP_011508876.1:p.Ala2914Thr
XM_011510575.1:c.6337G>A	XP_011508877.1:p.Ala2113Thr
XM_017003304.1:c.6337G>A	XP_016858793.1:p.Ala2113Thr
XM_024452684.1:c.7522G>A	XP_024308452.1:p.Ala2508Thr
NM_004369.4:c.8743G>A MANE Select	NP_004360.2:p.Ala2915Thr
NM_057166.5:c.6922G>A	NP_476507.3:p.Ala2308Thr
NM_057167.4:c.8125G>A	NP_476508.2:p.Ala2709Thr