Canonical Allele Identifier: CA351202707

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238253181C>G (hg19) ; chr2:g.237344538C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237344538C>G , CM000664.2:g.237344538C>G	GRCh38
NC_000002.11:g.238253181C>G , CM000664.1:g.238253181C>G	GRCh37
NC_000002.10:g.237917920C>G	NCBI36
NG_008676.1:g.74670G>C , LRG_473:g.74670G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.125G>C
ENST00000353578.9:c.6862G>C	ENSP00000315873.4:p.Val2288Leu
ENST00000295550.9:c.7480G>C MANE Select	ENSP00000295550.4:p.Val2494Leu
ENST00000295550.8:c.7480G>C	ENSP00000295550.4:p.Val2494Leu
ENST00000347401.7:c.5656G>C	ENSP00000315609.4:p.Val1886Leu
ENST00000353578.8:c.6862G>C	ENSP00000315873.4:p.Val2288Leu
ENST00000409809.5:c.6862G>C	ENSP00000386844.1:p.Val2288Leu
ENST00000472056.5:c.5659G>C	ENSP00000418285.1:p.Val1887Leu
ENST00000491769.1:n.1734G>C
NM_004369.3:c.7480G>C , LRG_473t1:c.7480G>C	NP_004360.2:p.Val2494Leu
NM_057166.4:c.5659G>C	NP_476507.3:p.Val1887Leu
NM_057167.3:c.6862G>C	NP_476508.2:p.Val2288Leu
XM_005246065.1:c.6880G>C	XP_005246122.1:p.Val2294Leu
XM_005246066.1:c.6259G>C	XP_005246123.1:p.Val2087Leu
XM_006712253.1:c.6979G>C	XP_006712316.1:p.Val2327Leu
XM_011510574.1:c.7477G>C	XP_011508876.1:p.Val2493Leu
XM_011510575.1:c.5074G>C	XP_011508877.1:p.Val1692Leu
XM_017003304.1:c.5074G>C	XP_016858793.1:p.Val1692Leu
XM_024452684.1:c.6259G>C	XP_024308452.1:p.Val2087Leu
NM_004369.4:c.7480G>C MANE Select	NP_004360.2:p.Val2494Leu
NM_057166.5:c.5659G>C	NP_476507.3:p.Val1887Leu
NM_057167.4:c.6862G>C	NP_476508.2:p.Val2288Leu