Canonical Allele Identifier: CA351191991

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238245134G>C (hg19) ; chr2:g.237336491G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336491G>C , CM000664.2:g.237336491G>C	GRCh38
NC_000002.11:g.238245134G>C , CM000664.1:g.238245134G>C	GRCh37
NC_000002.10:g.237909873G>C	NCBI36
NG_008676.1:g.82717C>G , LRG_473:g.82717C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1254C>G
ENST00000353578.9:c.7991C>G	ENSP00000315873.4:p.Pro2664Arg
ENST00000682957.1:c.736C>G
ENST00000684508.1:n.876C>G
ENST00000295550.9:c.8609C>G MANE Select	ENSP00000295550.4:p.Pro2870Arg
ENST00000295550.8:c.8609C>G	ENSP00000295550.4:p.Pro2870Arg
ENST00000347401.7:c.6785C>G	ENSP00000315609.4:p.Pro2262Arg
ENST00000353578.8:c.7991C>G	ENSP00000315873.4:p.Pro2664Arg
ENST00000409809.5:c.7991C>G	ENSP00000386844.1:p.Pro2664Arg
ENST00000472056.5:c.6788C>G	ENSP00000418285.1:p.Pro2263Arg
ENST00000491769.1:n.5051C>G
NM_004369.3:c.8609C>G , LRG_473t1:c.8609C>G	NP_004360.2:p.Pro2870Arg
NM_057166.4:c.6788C>G	NP_476507.3:p.Pro2263Arg
NM_057167.3:c.7991C>G	NP_476508.2:p.Pro2664Arg
XM_005246065.1:c.8009C>G	XP_005246122.1:p.Pro2670Arg
XM_005246066.1:c.7388C>G	XP_005246123.1:p.Pro2463Arg
XM_006712253.1:c.8108C>G	XP_006712316.1:p.Pro2703Arg
XM_011510574.1:c.8606C>G	XP_011508876.1:p.Pro2869Arg
XM_011510575.1:c.6203C>G	XP_011508877.1:p.Pro2068Arg
XM_017003304.1:c.6203C>G	XP_016858793.1:p.Pro2068Arg
XM_024452684.1:c.7388C>G	XP_024308452.1:p.Pro2463Arg
NM_004369.4:c.8609C>G MANE Select	NP_004360.2:p.Pro2870Arg
NM_057166.5:c.6788C>G	NP_476507.3:p.Pro2263Arg
NM_057167.4:c.7991C>G	NP_476508.2:p.Pro2664Arg