Canonical Allele Identifier: CA10604911

Gene: COL6A3

Linked Data

• ClinVar Variation Id: 284796
• ClinVar RCV Id: RCV000329760 ; RCV000653528
• dbSNP Id: rs397515332
• MyVariant Identifiers: chr2:g.238269781C>G (hg19) ; chr2:g.237361138C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237361138C>G , CM000664.2:g.237361138C>G	GRCh38
NC_000002.11:g.238269781C>G , CM000664.1:g.238269781C>G	GRCh37
NC_000002.10:g.237934520C>G	NCBI36
NG_008676.1:g.58070G>C , LRG_473:g.58070G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353578.9:c.5575G>C	ENSP00000315873.4:p.Gly1859Arg
ENST00000295550.9:c.6193G>C MANE Select	ENSP00000295550.4:p.Gly2065Arg
ENST00000295550.8:c.6193G>C	ENSP00000295550.4:p.Gly2065Arg
ENST00000347401.7:c.4372G>C	ENSP00000315609.4:p.Gly1458Arg
ENST00000353578.8:c.5575G>C	ENSP00000315873.4:p.Gly1859Arg
ENST00000409809.5:c.5575G>C	ENSP00000386844.1:p.Gly1859Arg
ENST00000472056.5:c.4372G>C	ENSP00000418285.1:p.Gly1458Arg
NM_004369.3:c.6193G>C , LRG_473t1:c.6193G>C	NP_004360.2:p.Gly2065Arg
NM_057166.4:c.4372G>C	NP_476507.3:p.Gly1458Arg
NM_057167.3:c.5575G>C	NP_476508.2:p.Gly1859Arg
XM_005246065.1:c.5593G>C	XP_005246122.1:p.Gly1865Arg
XM_005246066.1:c.4972G>C	XP_005246123.1:p.Gly1658Arg
XM_006712253.1:c.5692G>C	XP_006712316.1:p.Gly1898Arg
XM_011510574.1:c.6190G>C	XP_011508876.1:p.Gly2064Arg
XM_011510575.1:c.3787G>C	XP_011508877.1:p.Gly1263Arg
XM_017003304.1:c.3787G>C	XP_016858793.1:p.Gly1263Arg
XM_024452684.1:c.4972G>C	XP_024308452.1:p.Gly1658Arg
NM_004369.4:c.6193G>C MANE Select	NP_004360.2:p.Gly2065Arg
NM_057166.5:c.4372G>C	NP_476507.3:p.Gly1458Arg
NM_057167.4:c.5575G>C	NP_476508.2:p.Gly1859Arg