Canonical Allele Identifier: CA351202033

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238253084A>T (hg19) ; chr2:g.237344441A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237344441A>T , CM000664.2:g.237344441A>T	GRCh38
NC_000002.11:g.238253084A>T , CM000664.1:g.238253084A>T	GRCh37
NC_000002.10:g.237917823A>T	NCBI36
NG_008676.1:g.74767T>A , LRG_473:g.74767T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.222T>A
ENST00000353578.9:c.6959T>A	ENSP00000315873.4:p.Leu2320His
ENST00000295550.9:c.7577T>A MANE Select	ENSP00000295550.4:p.Leu2526His
ENST00000295550.8:c.7577T>A	ENSP00000295550.4:p.Leu2526His
ENST00000347401.7:c.5753T>A	ENSP00000315609.4:p.Leu1918His
ENST00000353578.8:c.6959T>A	ENSP00000315873.4:p.Leu2320His
ENST00000409809.5:c.6959T>A	ENSP00000386844.1:p.Leu2320His
ENST00000472056.5:c.5756T>A	ENSP00000418285.1:p.Leu1919His
ENST00000491769.1:n.1831T>A
NM_004369.3:c.7577T>A , LRG_473t1:c.7577T>A	NP_004360.2:p.Leu2526His
NM_057166.4:c.5756T>A	NP_476507.3:p.Leu1919His
NM_057167.3:c.6959T>A	NP_476508.2:p.Leu2320His
XM_005246065.1:c.6977T>A	XP_005246122.1:p.Leu2326His
XM_005246066.1:c.6356T>A	XP_005246123.1:p.Leu2119His
XM_006712253.1:c.7076T>A	XP_006712316.1:p.Leu2359His
XM_011510574.1:c.7574T>A	XP_011508876.1:p.Leu2525His
XM_011510575.1:c.5171T>A	XP_011508877.1:p.Leu1724His
XM_017003304.1:c.5171T>A	XP_016858793.1:p.Leu1724His
XM_024452684.1:c.6356T>A	XP_024308452.1:p.Leu2119His
NM_004369.4:c.7577T>A MANE Select	NP_004360.2:p.Leu2526His
NM_057166.5:c.5756T>A	NP_476507.3:p.Leu1919His
NM_057167.4:c.6959T>A	NP_476508.2:p.Leu2320His