Canonical Allele Identifier: CA351217582

Gene: COL6A3

Linked Data

• ClinVar Variation Id: 1978065
• ClinVar RCV Id: RCV002741648
• MyVariant Identifiers: chr2:g.238269817C>G (hg19) ; chr2:g.237361174C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237361174C>G , CM000664.2:g.237361174C>G	GRCh38
NC_000002.11:g.238269817C>G , CM000664.1:g.238269817C>G	GRCh37
NC_000002.10:g.237934556C>G	NCBI36
NG_008676.1:g.58034G>C , LRG_473:g.58034G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000353578.9:c.5539G>C	ENSP00000315873.4:p.Gly1847Arg
ENST00000295550.9:c.6157G>C MANE Select	ENSP00000295550.4:p.Gly2053Arg
ENST00000295550.8:c.6157G>C	ENSP00000295550.4:p.Gly2053Arg
ENST00000347401.7:c.4336G>C	ENSP00000315609.4:p.Gly1446Arg
ENST00000353578.8:c.5539G>C	ENSP00000315873.4:p.Gly1847Arg
ENST00000409809.5:c.5539G>C	ENSP00000386844.1:p.Gly1847Arg
ENST00000472056.5:c.4336G>C	ENSP00000418285.1:p.Gly1446Arg
NM_004369.3:c.6157G>C , LRG_473t1:c.6157G>C	NP_004360.2:p.Gly2053Arg
NM_057166.4:c.4336G>C	NP_476507.3:p.Gly1446Arg
NM_057167.3:c.5539G>C	NP_476508.2:p.Gly1847Arg
XM_005246065.1:c.5557G>C	XP_005246122.1:p.Gly1853Arg
XM_005246066.1:c.4936G>C	XP_005246123.1:p.Gly1646Arg
XM_006712253.1:c.5656G>C	XP_006712316.1:p.Gly1886Arg
XM_011510574.1:c.6154G>C	XP_011508876.1:p.Gly2052Arg
XM_011510575.1:c.3751G>C	XP_011508877.1:p.Gly1251Arg
XM_017003304.1:c.3751G>C	XP_016858793.1:p.Gly1251Arg
XM_024452684.1:c.4936G>C	XP_024308452.1:p.Gly1646Arg
NM_004369.4:c.6157G>C MANE Select	NP_004360.2:p.Gly2053Arg
NM_057166.5:c.4336G>C	NP_476507.3:p.Gly1446Arg
NM_057167.4:c.5539G>C	NP_476508.2:p.Gly1847Arg