Canonical Allele Identifier: CA2189207

Gene: COL6A3

Linked Data

• ClinVar Variation Id: 335131
• ClinVar RCV Id: RCV000369073 ; RCV002523125
• dbSNP Id: rs762778512
• ExAC: 2:238283499 C / T
• gnomAD v2: 2-238283499-C-T
• gnomAD v4: 2-237374856-C-T
• MyVariant Identifiers: chr2:g.238283499C>T (hg19) ; chr2:g.237374856C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237374856C>T , CM000664.2:g.237374856C>T	GRCh38
NC_000002.11:g.238283499C>T , CM000664.1:g.238283499C>T	GRCh37
NC_000002.10:g.237948238C>T	NCBI36
NG_008676.1:g.44352G>A , LRG_473:g.44352G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353578.9:c.2617G>A	ENSP00000315873.4:p.Glu873Lys
ENST00000295550.9:c.3235G>A MANE Select	ENSP00000295550.4:p.Glu1079Lys
ENST00000295550.8:c.3235G>A	ENSP00000295550.4:p.Glu1079Lys
ENST00000347401.7:c.1414G>A	ENSP00000315609.4:p.Glu472Lys
ENST00000353578.8:c.2617G>A	ENSP00000315873.4:p.Glu873Lys
ENST00000392003.6:c.2014G>A	ENSP00000375860.2:p.Glu672Lys
ENST00000392004.7:c.2617G>A	ENSP00000375861.3:p.Glu873Lys
ENST00000409809.5:c.2617G>A	ENSP00000386844.1:p.Glu873Lys
ENST00000472056.5:c.1414G>A	ENSP00000418285.1:p.Glu472Lys
NM_004369.3:c.3235G>A , LRG_473t1:c.3235G>A	NP_004360.2:p.Glu1079Lys
NM_057164.4:c.2014G>A	NP_476505.3:p.Glu672Lys
NM_057165.4:c.2617G>A	NP_476506.3:p.Glu873Lys
NM_057166.4:c.1414G>A	NP_476507.3:p.Glu472Lys
NM_057167.3:c.2617G>A	NP_476508.2:p.Glu873Lys
XM_005246065.1:c.2635G>A	XP_005246122.1:p.Glu879Lys
XM_005246066.1:c.2014G>A	XP_005246123.1:p.Glu672Lys
XM_006712253.1:c.3235G>A	XP_006712316.1:p.Glu1079Lys
XM_011510574.1:c.3235G>A	XP_011508876.1:p.Glu1079Lys
XM_011510575.1:c.829G>A	XP_011508877.1:p.Glu277Lys
XM_017003304.1:c.829G>A	XP_016858793.1:p.Glu277Lys
XM_024452684.1:c.2014G>A	XP_024308452.1:p.Glu672Lys
NM_004369.4:c.3235G>A MANE Select	NP_004360.2:p.Glu1079Lys
NM_057164.5:c.2014G>A	NP_476505.3:p.Glu672Lys
NM_057165.5:c.2617G>A	NP_476506.3:p.Glu873Lys
NM_057166.5:c.1414G>A	NP_476507.3:p.Glu472Lys
NM_057167.4:c.2617G>A	NP_476508.2:p.Glu873Lys