Canonical Allele Identifier: CA351195112

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238249214T>G (hg19) ; chr2:g.237340571T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237340571T>G , CM000664.2:g.237340571T>G	GRCh38
NC_000002.11:g.238249214T>G , CM000664.1:g.238249214T>G	GRCh37
NC_000002.10:g.237913953T>G	NCBI36
NG_008676.1:g.78637A>C , LRG_473:g.78637A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.990A>C
ENST00000353578.9:c.7727A>C	ENSP00000315873.4:p.Glu2576Ala
ENST00000682957.1:c.348A>C
ENST00000684508.1:n.612A>C
ENST00000295550.9:c.8345A>C MANE Select	ENSP00000295550.4:p.Glu2782Ala
ENST00000295550.8:c.8345A>C	ENSP00000295550.4:p.Glu2782Ala
ENST00000347401.7:c.6521A>C	ENSP00000315609.4:p.Glu2174Ala
ENST00000353578.8:c.7727A>C	ENSP00000315873.4:p.Glu2576Ala
ENST00000409809.5:c.7727A>C	ENSP00000386844.1:p.Glu2576Ala
ENST00000468792.1:n.32A>C
ENST00000472056.5:c.6524A>C	ENSP00000418285.1:p.Glu2175Ala
ENST00000491769.1:n.4787A>C
NM_004369.3:c.8345A>C , LRG_473t1:c.8345A>C	NP_004360.2:p.Glu2782Ala
NM_057166.4:c.6524A>C	NP_476507.3:p.Glu2175Ala
NM_057167.3:c.7727A>C	NP_476508.2:p.Glu2576Ala
XM_005246065.1:c.7745A>C	XP_005246122.1:p.Glu2582Ala
XM_005246066.1:c.7124A>C	XP_005246123.1:p.Glu2375Ala
XM_006712253.1:c.7844A>C	XP_006712316.1:p.Glu2615Ala
XM_011510574.1:c.8342A>C	XP_011508876.1:p.Glu2781Ala
XM_011510575.1:c.5939A>C	XP_011508877.1:p.Glu1980Ala
XM_017003304.1:c.5939A>C	XP_016858793.1:p.Glu1980Ala
XM_024452684.1:c.7124A>C	XP_024308452.1:p.Glu2375Ala
NM_004369.4:c.8345A>C MANE Select	NP_004360.2:p.Glu2782Ala
NM_057166.5:c.6524A>C	NP_476507.3:p.Glu2175Ala
NM_057167.4:c.7727A>C	NP_476508.2:p.Glu2576Ala