Canonical Allele Identifier: CA351190861

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238244780A>C (hg19) ; chr2:g.237336137A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336137A>C , CM000664.2:g.237336137A>C	GRCh38
NC_000002.11:g.238244780A>C , CM000664.1:g.238244780A>C	GRCh37
NC_000002.10:g.237909519A>C	NCBI36
NG_008676.1:g.83071T>G , LRG_473:g.83071T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1608T>G
ENST00000353578.9:c.8345T>G	ENSP00000315873.4:p.Met2782Arg
ENST00000682957.1:c.1090T>G
ENST00000684508.1:n.1230T>G
ENST00000295550.9:c.8963T>G MANE Select	ENSP00000295550.4:p.Met2988Arg
ENST00000295550.8:c.8963T>G	ENSP00000295550.4:p.Met2988Arg
ENST00000347401.7:c.7139T>G	ENSP00000315609.4:p.Met2380Arg
ENST00000353578.8:c.8345T>G	ENSP00000315873.4:p.Met2782Arg
ENST00000409809.5:c.8345T>G	ENSP00000386844.1:p.Met2782Arg
ENST00000472056.5:c.7142T>G	ENSP00000418285.1:p.Met2381Arg
ENST00000491769.1:n.5405T>G
NM_004369.3:c.8963T>G , LRG_473t1:c.8963T>G	NP_004360.2:p.Met2988Arg
NM_057166.4:c.7142T>G	NP_476507.3:p.Met2381Arg
NM_057167.3:c.8345T>G	NP_476508.2:p.Met2782Arg
XM_005246065.1:c.8363T>G	XP_005246122.1:p.Met2788Arg
XM_005246066.1:c.7742T>G	XP_005246123.1:p.Met2581Arg
XM_006712253.1:c.8462T>G	XP_006712316.1:p.Met2821Arg
XM_011510574.1:c.8960T>G	XP_011508876.1:p.Met2987Arg
XM_011510575.1:c.6557T>G	XP_011508877.1:p.Met2186Arg
XM_017003304.1:c.6557T>G	XP_016858793.1:p.Met2186Arg
XM_024452684.1:c.7742T>G	XP_024308452.1:p.Met2581Arg
NM_004369.4:c.8963T>G MANE Select	NP_004360.2:p.Met2988Arg
NM_057166.5:c.7142T>G	NP_476507.3:p.Met2381Arg
NM_057167.4:c.8345T>G	NP_476508.2:p.Met2782Arg