Canonical Allele Identifier: CA351209195

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238258817G>C (hg19) ; chr2:g.237350174G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237350174G>C , CM000664.2:g.237350174G>C	GRCh38
NC_000002.11:g.238258817G>C , CM000664.1:g.238258817G>C	GRCh37
NC_000002.10:g.237923556G>C	NCBI36
NG_008676.1:g.69034C>G , LRG_473:g.69034C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000353578.9:c.6234C>G	ENSP00000315873.4:p.Ile2078Met
ENST00000295550.9:c.6852C>G MANE Select	ENSP00000295550.4:p.Ile2284Met
ENST00000295550.8:c.6852C>G	ENSP00000295550.4:p.Ile2284Met
ENST00000347401.7:c.5031C>G	ENSP00000315609.4:p.Ile1677Met
ENST00000353578.8:c.6234C>G	ENSP00000315873.4:p.Ile2078Met
ENST00000409809.5:c.6234C>G	ENSP00000386844.1:p.Ile2078Met
ENST00000472056.5:c.5031C>G	ENSP00000418285.1:p.Ile1677Met
ENST00000491769.1:n.1106C>G
NM_004369.3:c.6852C>G , LRG_473t1:c.6852C>G	NP_004360.2:p.Ile2284Met
NM_057166.4:c.5031C>G	NP_476507.3:p.Ile1677Met
NM_057167.3:c.6234C>G	NP_476508.2:p.Ile2078Met
XM_005246065.1:c.6252C>G	XP_005246122.1:p.Ile2084Met
XM_005246066.1:c.5631C>G	XP_005246123.1:p.Ile1877Met
XM_006712253.1:c.6351C>G	XP_006712316.1:p.Ile2117Met
XM_011510574.1:c.6849C>G	XP_011508876.1:p.Ile2283Met
XM_011510575.1:c.4446C>G	XP_011508877.1:p.Ile1482Met
XM_017003304.1:c.4446C>G	XP_016858793.1:p.Ile1482Met
XM_024452684.1:c.5631C>G	XP_024308452.1:p.Ile1877Met
NM_004369.4:c.6852C>G MANE Select	NP_004360.2:p.Ile2284Met
NM_057166.5:c.5031C>G	NP_476507.3:p.Ile1677Met
NM_057167.4:c.6234C>G	NP_476508.2:p.Ile2078Met