Canonical Allele Identifier: CA431710306

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238253083G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237344440G>A , CM000664.2:g.237344440G>A	GRCh38
NC_000002.11:g.238253083G>A , CM000664.1:g.238253083G>A	GRCh37
NC_000002.10:g.237917822G>A	NCBI36
NG_008676.1:g.74768C>T , LRG_473:g.74768C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.223C>T
ENST00000353578.9:c.6960C>T	ENSP00000315873.4:p.Leu2320=
ENST00000295550.9:c.7578C>T MANE Select	ENSP00000295550.4:p.Leu2526=
ENST00000295550.8:c.7578C>T	ENSP00000295550.4:p.Leu2526=
ENST00000347401.7:c.5754C>T	ENSP00000315609.4:p.Leu1918=
ENST00000353578.8:c.6960C>T	ENSP00000315873.4:p.Leu2320=
ENST00000409809.5:c.6960C>T	ENSP00000386844.1:p.Leu2320=
ENST00000472056.5:c.5757C>T	ENSP00000418285.1:p.Leu1919=
ENST00000491769.1:n.1832C>T
NM_004369.3:c.7578C>T , LRG_473t1:c.7578C>T	NP_004360.2:p.Leu2526=
NM_057166.4:c.5757C>T	NP_476507.3:p.Leu1919=
NM_057167.3:c.6960C>T	NP_476508.2:p.Leu2320=
XM_005246065.1:c.6978C>T	XP_005246122.1:p.Leu2326=
XM_005246066.1:c.6357C>T	XP_005246123.1:p.Leu2119=
XM_006712253.1:c.7077C>T	XP_006712316.1:p.Leu2359=
XM_011510574.1:c.7575C>T	XP_011508876.1:p.Leu2525=
XM_011510575.1:c.5172C>T	XP_011508877.1:p.Leu1724=
XM_017003304.1:c.5172C>T	XP_016858793.1:p.Leu1724=
XM_024452684.1:c.6357C>T	XP_024308452.1:p.Leu2119=
NM_004369.4:c.7578C>T MANE Select	NP_004360.2:p.Leu2526=
NM_057166.5:c.5757C>T	NP_476507.3:p.Leu1919=
NM_057167.4:c.6960C>T	NP_476508.2:p.Leu2320=