Canonical Allele Identifier: CA2188060

Gene: COL6A3

Linked Data

• ClinVar Variation Id: 840112
• ClinVar RCV Id: RCV001042023
• dbSNP Id: rs751115326
• ExAC: 2:238258810 G / A
• gnomAD v2: 2-238258810-G-A
• gnomAD v3: 2-237350167-G-A
• gnomAD v4: 2-237350167-G-A
• COSMIC: COSM5485259
• MyVariant Identifiers: chr2:g.238258810G>A (hg19) ; chr2:g.237350167G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237350167G>A , CM000664.2:g.237350167G>A	GRCh38
NC_000002.11:g.238258810G>A , CM000664.1:g.238258810G>A	GRCh37
NC_000002.10:g.237923549G>A	NCBI36
NG_008676.1:g.69041C>T , LRG_473:g.69041C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000353578.9:c.6241C>T	ENSP00000315873.4:p.Arg2081Trp
ENST00000295550.9:c.6859C>T MANE Select	ENSP00000295550.4:p.Arg2287Trp
ENST00000295550.8:c.6859C>T	ENSP00000295550.4:p.Arg2287Trp
ENST00000347401.7:c.5038C>T	ENSP00000315609.4:p.Arg1680Trp
ENST00000353578.8:c.6241C>T	ENSP00000315873.4:p.Arg2081Trp
ENST00000409809.5:c.6241C>T	ENSP00000386844.1:p.Arg2081Trp
ENST00000472056.5:c.5038C>T	ENSP00000418285.1:p.Arg1680Trp
ENST00000491769.1:n.1113C>T
NM_004369.3:c.6859C>T , LRG_473t1:c.6859C>T	NP_004360.2:p.Arg2287Trp
NM_057166.4:c.5038C>T	NP_476507.3:p.Arg1680Trp
NM_057167.3:c.6241C>T	NP_476508.2:p.Arg2081Trp
XM_005246065.1:c.6259C>T	XP_005246122.1:p.Arg2087Trp
XM_005246066.1:c.5638C>T	XP_005246123.1:p.Arg1880Trp
XM_006712253.1:c.6358C>T	XP_006712316.1:p.Arg2120Trp
XM_011510574.1:c.6856C>T	XP_011508876.1:p.Arg2286Trp
XM_011510575.1:c.4453C>T	XP_011508877.1:p.Arg1485Trp
XM_017003304.1:c.4453C>T	XP_016858793.1:p.Arg1485Trp
XM_024452684.1:c.5638C>T	XP_024308452.1:p.Arg1880Trp
NM_004369.4:c.6859C>T MANE Select	NP_004360.2:p.Arg2287Trp
NM_057166.5:c.5038C>T	NP_476507.3:p.Arg1680Trp
NM_057167.4:c.6241C>T	NP_476508.2:p.Arg2081Trp