Canonical Allele Identifier: CA351191957

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238245114C>T (hg19) ; chr2:g.237336471C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336471C>T , CM000664.2:g.237336471C>T	GRCh38
NC_000002.11:g.238245114C>T , CM000664.1:g.238245114C>T	GRCh37
NC_000002.10:g.237909853C>T	NCBI36
NG_008676.1:g.82737G>A , LRG_473:g.82737G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1274G>A
ENST00000353578.9:c.8011G>A	ENSP00000315873.4:p.Val2671Met
ENST00000682957.1:c.756G>A
ENST00000684508.1:n.896G>A
ENST00000295550.9:c.8629G>A MANE Select	ENSP00000295550.4:p.Val2877Met
ENST00000295550.8:c.8629G>A	ENSP00000295550.4:p.Val2877Met
ENST00000347401.7:c.6805G>A	ENSP00000315609.4:p.Val2269Met
ENST00000353578.8:c.8011G>A	ENSP00000315873.4:p.Val2671Met
ENST00000409809.5:c.8011G>A	ENSP00000386844.1:p.Val2671Met
ENST00000472056.5:c.6808G>A	ENSP00000418285.1:p.Val2270Met
ENST00000491769.1:n.5071G>A
NM_004369.3:c.8629G>A , LRG_473t1:c.8629G>A	NP_004360.2:p.Val2877Met
NM_057166.4:c.6808G>A	NP_476507.3:p.Val2270Met
NM_057167.3:c.8011G>A	NP_476508.2:p.Val2671Met
XM_005246065.1:c.8029G>A	XP_005246122.1:p.Val2677Met
XM_005246066.1:c.7408G>A	XP_005246123.1:p.Val2470Met
XM_006712253.1:c.8128G>A	XP_006712316.1:p.Val2710Met
XM_011510574.1:c.8626G>A	XP_011508876.1:p.Val2876Met
XM_011510575.1:c.6223G>A	XP_011508877.1:p.Val2075Met
XM_017003304.1:c.6223G>A	XP_016858793.1:p.Val2075Met
XM_024452684.1:c.7408G>A	XP_024308452.1:p.Val2470Met
NM_004369.4:c.8629G>A MANE Select	NP_004360.2:p.Val2877Met
NM_057166.5:c.6808G>A	NP_476507.3:p.Val2270Met
NM_057167.4:c.8011G>A	NP_476508.2:p.Val2671Met