Canonical Allele Identifier: CA431698583

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238244833A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336190A>G , CM000664.2:g.237336190A>G	GRCh38
NC_000002.11:g.238244833A>G , CM000664.1:g.238244833A>G	GRCh37
NC_000002.10:g.237909572A>G	NCBI36
NG_008676.1:g.83018T>C , LRG_473:g.83018T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1555T>C
ENST00000353578.9:c.8292T>C	ENSP00000315873.4:p.Pro2764=
ENST00000682957.1:c.1037T>C
ENST00000684508.1:n.1177T>C
ENST00000295550.9:c.8910T>C MANE Select	ENSP00000295550.4:p.Pro2970=
ENST00000295550.8:c.8910T>C	ENSP00000295550.4:p.Pro2970=
ENST00000347401.7:c.7086T>C	ENSP00000315609.4:p.Pro2362=
ENST00000353578.8:c.8292T>C	ENSP00000315873.4:p.Pro2764=
ENST00000409809.5:c.8292T>C	ENSP00000386844.1:p.Pro2764=
ENST00000472056.5:c.7089T>C	ENSP00000418285.1:p.Pro2363=
ENST00000491769.1:n.5352T>C
NM_004369.3:c.8910T>C , LRG_473t1:c.8910T>C	NP_004360.2:p.Pro2970=
NM_057166.4:c.7089T>C	NP_476507.3:p.Pro2363=
NM_057167.3:c.8292T>C	NP_476508.2:p.Pro2764=
XM_005246065.1:c.8310T>C	XP_005246122.1:p.Pro2770=
XM_005246066.1:c.7689T>C	XP_005246123.1:p.Pro2563=
XM_006712253.1:c.8409T>C	XP_006712316.1:p.Pro2803=
XM_011510574.1:c.8907T>C	XP_011508876.1:p.Pro2969=
XM_011510575.1:c.6504T>C	XP_011508877.1:p.Pro2168=
XM_017003304.1:c.6504T>C	XP_016858793.1:p.Pro2168=
XM_024452684.1:c.7689T>C	XP_024308452.1:p.Pro2563=
NM_004369.4:c.8910T>C MANE Select	NP_004360.2:p.Pro2970=
NM_057166.5:c.7089T>C	NP_476507.3:p.Pro2363=
NM_057167.4:c.8292T>C	NP_476508.2:p.Pro2764=