Canonical Allele Identifier: CA351191210

Gene: COL6A3

Linked Data

• dbSNP Id: rs1574931469
• MyVariant Identifiers: chr2:g.238244884T>G (hg19) ; chr2:g.237336241T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336241T>G , CM000664.2:g.237336241T>G	GRCh38
NC_000002.11:g.238244884T>G , CM000664.1:g.238244884T>G	GRCh37
NC_000002.10:g.237909623T>G	NCBI36
NG_008676.1:g.82967A>C , LRG_473:g.82967A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1504A>C
ENST00000353578.9:c.8241A>C	ENSP00000315873.4:p.Arg2747Ser
ENST00000682957.1:c.986A>C
ENST00000684508.1:n.1126A>C
ENST00000295550.9:c.8859A>C MANE Select	ENSP00000295550.4:p.Arg2953Ser
ENST00000295550.8:c.8859A>C	ENSP00000295550.4:p.Arg2953Ser
ENST00000347401.7:c.7035A>C	ENSP00000315609.4:p.Arg2345Ser
ENST00000353578.8:c.8241A>C	ENSP00000315873.4:p.Arg2747Ser
ENST00000409809.5:c.8241A>C	ENSP00000386844.1:p.Arg2747Ser
ENST00000472056.5:c.7038A>C	ENSP00000418285.1:p.Arg2346Ser
ENST00000491769.1:n.5301A>C
NM_004369.3:c.8859A>C , LRG_473t1:c.8859A>C	NP_004360.2:p.Arg2953Ser
NM_057166.4:c.7038A>C	NP_476507.3:p.Arg2346Ser
NM_057167.3:c.8241A>C	NP_476508.2:p.Arg2747Ser
XM_005246065.1:c.8259A>C	XP_005246122.1:p.Arg2753Ser
XM_005246066.1:c.7638A>C	XP_005246123.1:p.Arg2546Ser
XM_006712253.1:c.8358A>C	XP_006712316.1:p.Arg2786Ser
XM_011510574.1:c.8856A>C	XP_011508876.1:p.Arg2952Ser
XM_011510575.1:c.6453A>C	XP_011508877.1:p.Arg2151Ser
XM_017003304.1:c.6453A>C	XP_016858793.1:p.Arg2151Ser
XM_024452684.1:c.7638A>C	XP_024308452.1:p.Arg2546Ser
NM_004369.4:c.8859A>C MANE Select	NP_004360.2:p.Arg2953Ser
NM_057166.5:c.7038A>C	NP_476507.3:p.Arg2346Ser
NM_057167.4:c.8241A>C	NP_476508.2:p.Arg2747Ser