Canonical Allele Identifier: CA351188793

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238243433A>C (hg19) ; chr2:g.237334790A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237334790A>C , CM000664.2:g.237334790A>C	GRCh38
NC_000002.11:g.238243433A>C , CM000664.1:g.238243433A>C	GRCh37
NC_000002.10:g.237908172A>C	NCBI36
NG_008676.1:g.84418T>G , LRG_473:g.84418T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000347401.8:c.1611-1242T>G
ENST00000353578.9:c.8447T>G	ENSP00000315873.4:p.Leu2816Arg
ENST00000682957.1:c.1192T>G
ENST00000295550.9:c.9065T>G MANE Select	ENSP00000295550.4:p.Leu3022Arg
ENST00000295550.8:c.9065T>G	ENSP00000295550.4:p.Leu3022Arg
ENST00000347401.7:c.7241T>G	ENSP00000315609.4:p.Leu2414Arg
ENST00000353578.8:c.8447T>G	ENSP00000315873.4:p.Leu2816Arg
ENST00000409809.5:c.8447T>G	ENSP00000386844.1:p.Leu2816Arg
ENST00000472056.5:c.7244T>G	ENSP00000418285.1:p.Leu2415Arg
ENST00000491769.1:n.5507T>G
NM_004369.3:c.9065T>G , LRG_473t1:c.9065T>G	NP_004360.2:p.Leu3022Arg
NM_057166.4:c.7244T>G	NP_476507.3:p.Leu2415Arg
NM_057167.3:c.8447T>G	NP_476508.2:p.Leu2816Arg
XM_005246065.1:c.8465T>G	XP_005246122.1:p.Leu2822Arg
XM_005246066.1:c.7844T>G	XP_005246123.1:p.Leu2615Arg
XM_006712253.1:c.8564T>G	XP_006712316.1:p.Leu2855Arg
XM_011510574.1:c.9062T>G	XP_011508876.1:p.Leu3021Arg
XM_011510575.1:c.6659T>G	XP_011508877.1:p.Leu2220Arg
XM_017003304.1:c.6659T>G	XP_016858793.1:p.Leu2220Arg
XM_024452684.1:c.7844T>G	XP_024308452.1:p.Leu2615Arg
NM_004369.4:c.9065T>G MANE Select	NP_004360.2:p.Leu3022Arg
NM_057166.5:c.7244T>G	NP_476507.3:p.Leu2415Arg
NM_057167.4:c.8447T>G	NP_476508.2:p.Leu2816Arg