Canonical Allele Identifier: CA351191920

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238245095A>C (hg19) ; chr2:g.237336452A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336452A>C , CM000664.2:g.237336452A>C	GRCh38
NC_000002.11:g.238245095A>C , CM000664.1:g.238245095A>C	GRCh37
NC_000002.10:g.237909834A>C	NCBI36
NG_008676.1:g.82756T>G , LRG_473:g.82756T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1293T>G
ENST00000353578.9:c.8030T>G	ENSP00000315873.4:p.Val2677Gly
ENST00000682957.1:c.775T>G
ENST00000684508.1:n.915T>G
ENST00000295550.9:c.8648T>G MANE Select	ENSP00000295550.4:p.Val2883Gly
ENST00000295550.8:c.8648T>G	ENSP00000295550.4:p.Val2883Gly
ENST00000347401.7:c.6824T>G	ENSP00000315609.4:p.Val2275Gly
ENST00000353578.8:c.8030T>G	ENSP00000315873.4:p.Val2677Gly
ENST00000409809.5:c.8030T>G	ENSP00000386844.1:p.Val2677Gly
ENST00000472056.5:c.6827T>G	ENSP00000418285.1:p.Val2276Gly
ENST00000491769.1:n.5090T>G
NM_004369.3:c.8648T>G , LRG_473t1:c.8648T>G	NP_004360.2:p.Val2883Gly
NM_057166.4:c.6827T>G	NP_476507.3:p.Val2276Gly
NM_057167.3:c.8030T>G	NP_476508.2:p.Val2677Gly
XM_005246065.1:c.8048T>G	XP_005246122.1:p.Val2683Gly
XM_005246066.1:c.7427T>G	XP_005246123.1:p.Val2476Gly
XM_006712253.1:c.8147T>G	XP_006712316.1:p.Val2716Gly
XM_011510574.1:c.8645T>G	XP_011508876.1:p.Val2882Gly
XM_011510575.1:c.6242T>G	XP_011508877.1:p.Val2081Gly
XM_017003304.1:c.6242T>G	XP_016858793.1:p.Val2081Gly
XM_024452684.1:c.7427T>G	XP_024308452.1:p.Val2476Gly
NM_004369.4:c.8648T>G MANE Select	NP_004360.2:p.Val2883Gly
NM_057166.5:c.6827T>G	NP_476507.3:p.Val2276Gly
NM_057167.4:c.8030T>G	NP_476508.2:p.Val2677Gly