Canonical Allele Identifier: CA351189659

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238243526A>C (hg19) ; chr2:g.237334883A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237334883A>C , CM000664.2:g.237334883A>C	GRCh38
NC_000002.11:g.238243526A>C , CM000664.1:g.238243526A>C	GRCh37
NC_000002.10:g.237908265A>C	NCBI36
NG_008676.1:g.84325T>G , LRG_473:g.84325T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000347401.8:c.1610+1252T>G
ENST00000353578.9:c.8354T>G	ENSP00000315873.4:p.Met2785Arg
ENST00000682957.1:c.1099T>G
ENST00000295550.9:c.8972T>G MANE Select	ENSP00000295550.4:p.Met2991Arg
ENST00000295550.8:c.8972T>G	ENSP00000295550.4:p.Met2991Arg
ENST00000347401.7:c.7148T>G	ENSP00000315609.4:p.Met2383Arg
ENST00000353578.8:c.8354T>G	ENSP00000315873.4:p.Met2785Arg
ENST00000409809.5:c.8354T>G	ENSP00000386844.1:p.Met2785Arg
ENST00000472056.5:c.7151T>G	ENSP00000418285.1:p.Met2384Arg
ENST00000491769.1:n.5414T>G
NM_004369.3:c.8972T>G , LRG_473t1:c.8972T>G	NP_004360.2:p.Met2991Arg
NM_057166.4:c.7151T>G	NP_476507.3:p.Met2384Arg
NM_057167.3:c.8354T>G	NP_476508.2:p.Met2785Arg
XM_005246065.1:c.8372T>G	XP_005246122.1:p.Met2791Arg
XM_005246066.1:c.7751T>G	XP_005246123.1:p.Met2584Arg
XM_006712253.1:c.8471T>G	XP_006712316.1:p.Met2824Arg
XM_011510574.1:c.8969T>G	XP_011508876.1:p.Met2990Arg
XM_011510575.1:c.6566T>G	XP_011508877.1:p.Met2189Arg
XM_017003304.1:c.6566T>G	XP_016858793.1:p.Met2189Arg
XM_024452684.1:c.7751T>G	XP_024308452.1:p.Met2584Arg
NM_004369.4:c.8972T>G MANE Select	NP_004360.2:p.Met2991Arg
NM_057166.5:c.7151T>G	NP_476507.3:p.Met2384Arg
NM_057167.4:c.8354T>G	NP_476508.2:p.Met2785Arg