Canonical Allele Identifier: CA351191195

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238244876G>A (hg19) ; chr2:g.237336233G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336233G>A , CM000664.2:g.237336233G>A	GRCh38
NC_000002.11:g.238244876G>A , CM000664.1:g.238244876G>A	GRCh37
NC_000002.10:g.237909615G>A	NCBI36
NG_008676.1:g.82975C>T , LRG_473:g.82975C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1512C>T
ENST00000353578.9:c.8249C>T	ENSP00000315873.4:p.Ala2750Val
ENST00000682957.1:c.994C>T
ENST00000684508.1:n.1134C>T
ENST00000295550.9:c.8867C>T MANE Select	ENSP00000295550.4:p.Ala2956Val
ENST00000295550.8:c.8867C>T	ENSP00000295550.4:p.Ala2956Val
ENST00000347401.7:c.7043C>T	ENSP00000315609.4:p.Ala2348Val
ENST00000353578.8:c.8249C>T	ENSP00000315873.4:p.Ala2750Val
ENST00000409809.5:c.8249C>T	ENSP00000386844.1:p.Ala2750Val
ENST00000472056.5:c.7046C>T	ENSP00000418285.1:p.Ala2349Val
ENST00000491769.1:n.5309C>T
NM_004369.3:c.8867C>T , LRG_473t1:c.8867C>T	NP_004360.2:p.Ala2956Val
NM_057166.4:c.7046C>T	NP_476507.3:p.Ala2349Val
NM_057167.3:c.8249C>T	NP_476508.2:p.Ala2750Val
XM_005246065.1:c.8267C>T	XP_005246122.1:p.Ala2756Val
XM_005246066.1:c.7646C>T	XP_005246123.1:p.Ala2549Val
XM_006712253.1:c.8366C>T	XP_006712316.1:p.Ala2789Val
XM_011510574.1:c.8864C>T	XP_011508876.1:p.Ala2955Val
XM_011510575.1:c.6461C>T	XP_011508877.1:p.Ala2154Val
XM_017003304.1:c.6461C>T	XP_016858793.1:p.Ala2154Val
XM_024452684.1:c.7646C>T	XP_024308452.1:p.Ala2549Val
NM_004369.4:c.8867C>T MANE Select	NP_004360.2:p.Ala2956Val
NM_057166.5:c.7046C>T	NP_476507.3:p.Ala2349Val
NM_057167.4:c.8249C>T	NP_476508.2:p.Ala2750Val