Canonical Allele Identifier: CA351191129

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238244847T>C (hg19) ; chr2:g.237336204T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336204T>C , CM000664.2:g.237336204T>C	GRCh38
NC_000002.11:g.238244847T>C , CM000664.1:g.238244847T>C	GRCh37
NC_000002.10:g.237909586T>C	NCBI36
NG_008676.1:g.83004A>G , LRG_473:g.83004A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1541A>G
ENST00000353578.9:c.8278A>G	ENSP00000315873.4:p.Lys2760Glu
ENST00000682957.1:c.1023A>G
ENST00000684508.1:n.1163A>G
ENST00000295550.9:c.8896A>G MANE Select	ENSP00000295550.4:p.Lys2966Glu
ENST00000295550.8:c.8896A>G	ENSP00000295550.4:p.Lys2966Glu
ENST00000347401.7:c.7072A>G	ENSP00000315609.4:p.Lys2358Glu
ENST00000353578.8:c.8278A>G	ENSP00000315873.4:p.Lys2760Glu
ENST00000409809.5:c.8278A>G	ENSP00000386844.1:p.Lys2760Glu
ENST00000472056.5:c.7075A>G	ENSP00000418285.1:p.Lys2359Glu
ENST00000491769.1:n.5338A>G
NM_004369.3:c.8896A>G , LRG_473t1:c.8896A>G	NP_004360.2:p.Lys2966Glu
NM_057166.4:c.7075A>G	NP_476507.3:p.Lys2359Glu
NM_057167.3:c.8278A>G	NP_476508.2:p.Lys2760Glu
XM_005246065.1:c.8296A>G	XP_005246122.1:p.Lys2766Glu
XM_005246066.1:c.7675A>G	XP_005246123.1:p.Lys2559Glu
XM_006712253.1:c.8395A>G	XP_006712316.1:p.Lys2799Glu
XM_011510574.1:c.8893A>G	XP_011508876.1:p.Lys2965Glu
XM_011510575.1:c.6490A>G	XP_011508877.1:p.Lys2164Glu
XM_017003304.1:c.6490A>G	XP_016858793.1:p.Lys2164Glu
XM_024452684.1:c.7675A>G	XP_024308452.1:p.Lys2559Glu
NM_004369.4:c.8896A>G MANE Select	NP_004360.2:p.Lys2966Glu
NM_057166.5:c.7075A>G	NP_476507.3:p.Lys2359Glu
NM_057167.4:c.8278A>G	NP_476508.2:p.Lys2760Glu