Canonical Allele Identifier: CA351191761

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238245014G>T (hg19) ; chr2:g.237336371G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336371G>T , CM000664.2:g.237336371G>T	GRCh38
NC_000002.11:g.238245014G>T , CM000664.1:g.238245014G>T	GRCh37
NC_000002.10:g.237909753G>T	NCBI36
NG_008676.1:g.82837C>A , LRG_473:g.82837C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1374C>A
ENST00000353578.9:c.8111C>A	ENSP00000315873.4:p.Ala2704Glu
ENST00000682957.1:c.856C>A
ENST00000684508.1:n.996C>A
ENST00000295550.9:c.8729C>A MANE Select	ENSP00000295550.4:p.Ala2910Glu
ENST00000295550.8:c.8729C>A	ENSP00000295550.4:p.Ala2910Glu
ENST00000347401.7:c.6905C>A	ENSP00000315609.4:p.Ala2302Glu
ENST00000353578.8:c.8111C>A	ENSP00000315873.4:p.Ala2704Glu
ENST00000409809.5:c.8111C>A	ENSP00000386844.1:p.Ala2704Glu
ENST00000472056.5:c.6908C>A	ENSP00000418285.1:p.Ala2303Glu
ENST00000491769.1:n.5171C>A
NM_004369.3:c.8729C>A , LRG_473t1:c.8729C>A	NP_004360.2:p.Ala2910Glu
NM_057166.4:c.6908C>A	NP_476507.3:p.Ala2303Glu
NM_057167.3:c.8111C>A	NP_476508.2:p.Ala2704Glu
XM_005246065.1:c.8129C>A	XP_005246122.1:p.Ala2710Glu
XM_005246066.1:c.7508C>A	XP_005246123.1:p.Ala2503Glu
XM_006712253.1:c.8228C>A	XP_006712316.1:p.Ala2743Glu
XM_011510574.1:c.8726C>A	XP_011508876.1:p.Ala2909Glu
XM_011510575.1:c.6323C>A	XP_011508877.1:p.Ala2108Glu
XM_017003304.1:c.6323C>A	XP_016858793.1:p.Ala2108Glu
XM_024452684.1:c.7508C>A	XP_024308452.1:p.Ala2503Glu
NM_004369.4:c.8729C>A MANE Select	NP_004360.2:p.Ala2910Glu
NM_057166.5:c.6908C>A	NP_476507.3:p.Ala2303Glu
NM_057167.4:c.8111C>A	NP_476508.2:p.Ala2704Glu