Canonical Allele Identifier: CA431701550

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238249210T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237340567T>A , CM000664.2:g.237340567T>A	GRCh38
NC_000002.11:g.238249210T>A , CM000664.1:g.238249210T>A	GRCh37
NC_000002.10:g.237913949T>A	NCBI36
NG_008676.1:g.78641A>T , LRG_473:g.78641A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.994A>T
ENST00000353578.9:c.7731A>T	ENSP00000315873.4:p.Val2577=
ENST00000682957.1:c.352A>T
ENST00000684508.1:n.616A>T
ENST00000295550.9:c.8349A>T MANE Select	ENSP00000295550.4:p.Val2783=
ENST00000295550.8:c.8349A>T	ENSP00000295550.4:p.Val2783=
ENST00000347401.7:c.6525A>T	ENSP00000315609.4:p.Val2175=
ENST00000353578.8:c.7731A>T	ENSP00000315873.4:p.Val2577=
ENST00000409809.5:c.7731A>T	ENSP00000386844.1:p.Val2577=
ENST00000468792.1:n.36A>T
ENST00000472056.5:c.6528A>T	ENSP00000418285.1:p.Val2176=
ENST00000491769.1:n.4791A>T
NM_004369.3:c.8349A>T , LRG_473t1:c.8349A>T	NP_004360.2:p.Val2783=
NM_057166.4:c.6528A>T	NP_476507.3:p.Val2176=
NM_057167.3:c.7731A>T	NP_476508.2:p.Val2577=
XM_005246065.1:c.7749A>T	XP_005246122.1:p.Val2583=
XM_005246066.1:c.7128A>T	XP_005246123.1:p.Val2376=
XM_006712253.1:c.7848A>T	XP_006712316.1:p.Val2616=
XM_011510574.1:c.8346A>T	XP_011508876.1:p.Val2782=
XM_011510575.1:c.5943A>T	XP_011508877.1:p.Val1981=
XM_017003304.1:c.5943A>T	XP_016858793.1:p.Val1981=
XM_024452684.1:c.7128A>T	XP_024308452.1:p.Val2376=
NM_004369.4:c.8349A>T MANE Select	NP_004360.2:p.Val2783=
NM_057166.5:c.6528A>T	NP_476507.3:p.Val2176=
NM_057167.4:c.7731A>T	NP_476508.2:p.Val2577=