Canonical Allele Identifier: CA351191898

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238245081T>A (hg19) ; chr2:g.237336438T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336438T>A , CM000664.2:g.237336438T>A	GRCh38
NC_000002.11:g.238245081T>A , CM000664.1:g.238245081T>A	GRCh37
NC_000002.10:g.237909820T>A	NCBI36
NG_008676.1:g.82770A>T , LRG_473:g.82770A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1307A>T
ENST00000353578.9:c.8044A>T	ENSP00000315873.4:p.Lys2682Ter
ENST00000682957.1:c.789A>T
ENST00000684508.1:n.929A>T
ENST00000295550.9:c.8662A>T MANE Select	ENSP00000295550.4:p.Lys2888Ter
ENST00000295550.8:c.8662A>T	ENSP00000295550.4:p.Lys2888Ter
ENST00000347401.7:c.6838A>T	ENSP00000315609.4:p.Lys2280Ter
ENST00000353578.8:c.8044A>T	ENSP00000315873.4:p.Lys2682Ter
ENST00000409809.5:c.8044A>T	ENSP00000386844.1:p.Lys2682Ter
ENST00000472056.5:c.6841A>T	ENSP00000418285.1:p.Lys2281Ter
ENST00000491769.1:n.5104A>T
NM_004369.3:c.8662A>T , LRG_473t1:c.8662A>T	NP_004360.2:p.Lys2888Ter
NM_057166.4:c.6841A>T	NP_476507.3:p.Lys2281Ter
NM_057167.3:c.8044A>T	NP_476508.2:p.Lys2682Ter
XM_005246065.1:c.8062A>T	XP_005246122.1:p.Lys2688Ter
XM_005246066.1:c.7441A>T	XP_005246123.1:p.Lys2481Ter
XM_006712253.1:c.8161A>T	XP_006712316.1:p.Lys2721Ter
XM_011510574.1:c.8659A>T	XP_011508876.1:p.Lys2887Ter
XM_011510575.1:c.6256A>T	XP_011508877.1:p.Lys2086Ter
XM_017003304.1:c.6256A>T	XP_016858793.1:p.Lys2086Ter
XM_024452684.1:c.7441A>T	XP_024308452.1:p.Lys2481Ter
NM_004369.4:c.8662A>T MANE Select	NP_004360.2:p.Lys2888Ter
NM_057166.5:c.6841A>T	NP_476507.3:p.Lys2281Ter
NM_057167.4:c.8044A>T	NP_476508.2:p.Lys2682Ter