Canonical Allele Identifier: CA2187792

Gene: COL6A3

Linked Data

• ClinVar Variation Id: 290462
• ClinVar RCV Id: RCV000333171 ; RCV000696056
• dbSNP Id: rs545819982
• ExAC: 2:238253148 C / T
• gnomAD v2: 2-238253148-C-T
• gnomAD v3: 2-237344505-C-T
• gnomAD v4: 2-237344505-C-T
• COSMIC: COSM1565671
• MyVariant Identifiers: chr2:g.238253148C>T (hg19) ; chr2:g.237344505C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237344505C>T , CM000664.2:g.237344505C>T	GRCh38
NC_000002.11:g.238253148C>T , CM000664.1:g.238253148C>T	GRCh37
NC_000002.10:g.237917887C>T	NCBI36
NG_008676.1:g.74703G>A , LRG_473:g.74703G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.158G>A
ENST00000353578.9:c.6895G>A	ENSP00000315873.4:p.Gly2299Arg
ENST00000295550.9:c.7513G>A MANE Select	ENSP00000295550.4:p.Gly2505Arg
ENST00000295550.8:c.7513G>A	ENSP00000295550.4:p.Gly2505Arg
ENST00000347401.7:c.5689G>A	ENSP00000315609.4:p.Gly1897Arg
ENST00000353578.8:c.6895G>A	ENSP00000315873.4:p.Gly2299Arg
ENST00000409809.5:c.6895G>A	ENSP00000386844.1:p.Gly2299Arg
ENST00000472056.5:c.5692G>A	ENSP00000418285.1:p.Gly1898Arg
ENST00000491769.1:n.1767G>A
NM_004369.3:c.7513G>A , LRG_473t1:c.7513G>A	NP_004360.2:p.Gly2505Arg
NM_057166.4:c.5692G>A	NP_476507.3:p.Gly1898Arg
NM_057167.3:c.6895G>A	NP_476508.2:p.Gly2299Arg
XM_005246065.1:c.6913G>A	XP_005246122.1:p.Gly2305Arg
XM_005246066.1:c.6292G>A	XP_005246123.1:p.Gly2098Arg
XM_006712253.1:c.7012G>A	XP_006712316.1:p.Gly2338Arg
XM_011510574.1:c.7510G>A	XP_011508876.1:p.Gly2504Arg
XM_011510575.1:c.5107G>A	XP_011508877.1:p.Gly1703Arg
XM_017003304.1:c.5107G>A	XP_016858793.1:p.Gly1703Arg
XM_024452684.1:c.6292G>A	XP_024308452.1:p.Gly2098Arg
NM_004369.4:c.7513G>A MANE Select	NP_004360.2:p.Gly2505Arg
NM_057166.5:c.5692G>A	NP_476507.3:p.Gly1898Arg
NM_057167.4:c.6895G>A	NP_476508.2:p.Gly2299Arg