Canonical Allele Identifier: CA351194591

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238249138C>G (hg19) ; chr2:g.237340495C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237340495C>G , CM000664.2:g.237340495C>G	GRCh38
NC_000002.11:g.238249138C>G , CM000664.1:g.238249138C>G	GRCh37
NC_000002.10:g.237913877C>G	NCBI36
NG_008676.1:g.78713G>C , LRG_473:g.78713G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1066G>C
ENST00000353578.9:c.7803G>C	ENSP00000315873.4:p.Glu2601Asp
ENST00000682957.1:c.424G>C
ENST00000684508.1:n.688G>C
ENST00000295550.9:c.8421G>C MANE Select	ENSP00000295550.4:p.Glu2807Asp
ENST00000295550.8:c.8421G>C	ENSP00000295550.4:p.Glu2807Asp
ENST00000347401.7:c.6597G>C	ENSP00000315609.4:p.Glu2199Asp
ENST00000353578.8:c.7803G>C	ENSP00000315873.4:p.Glu2601Asp
ENST00000409809.5:c.7803G>C	ENSP00000386844.1:p.Glu2601Asp
ENST00000468792.1:n.108G>C
ENST00000472056.5:c.6600G>C	ENSP00000418285.1:p.Glu2200Asp
ENST00000491769.1:n.4863G>C
NM_004369.3:c.8421G>C , LRG_473t1:c.8421G>C	NP_004360.2:p.Glu2807Asp
NM_057166.4:c.6600G>C	NP_476507.3:p.Glu2200Asp
NM_057167.3:c.7803G>C	NP_476508.2:p.Glu2601Asp
XM_005246065.1:c.7821G>C	XP_005246122.1:p.Glu2607Asp
XM_005246066.1:c.7200G>C	XP_005246123.1:p.Glu2400Asp
XM_006712253.1:c.7920G>C	XP_006712316.1:p.Glu2640Asp
XM_011510574.1:c.8418G>C	XP_011508876.1:p.Glu2806Asp
XM_011510575.1:c.6015G>C	XP_011508877.1:p.Glu2005Asp
XM_017003304.1:c.6015G>C	XP_016858793.1:p.Glu2005Asp
XM_024452684.1:c.7200G>C	XP_024308452.1:p.Glu2400Asp
NM_004369.4:c.8421G>C MANE Select	NP_004360.2:p.Glu2807Asp
NM_057166.5:c.6600G>C	NP_476507.3:p.Glu2200Asp
NM_057167.4:c.7803G>C	NP_476508.2:p.Glu2601Asp