Canonical Allele Identifier: CA351195790

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238249308G>T (hg19) ; chr2:g.237340665G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237340665G>T , CM000664.2:g.237340665G>T	GRCh38
NC_000002.11:g.238249308G>T , CM000664.1:g.238249308G>T	GRCh37
NC_000002.10:g.237914047G>T	NCBI36
NG_008676.1:g.78543C>A , LRG_473:g.78543C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.896C>A
ENST00000353578.9:c.7633C>A	ENSP00000315873.4:p.Gln2545Lys
ENST00000682957.1:c.254C>A
ENST00000684508.1:n.518C>A
ENST00000295550.9:c.8251C>A MANE Select	ENSP00000295550.4:p.Gln2751Lys
ENST00000295550.8:c.8251C>A	ENSP00000295550.4:p.Gln2751Lys
ENST00000347401.7:c.6427C>A	ENSP00000315609.4:p.Gln2143Lys
ENST00000353578.8:c.7633C>A	ENSP00000315873.4:p.Gln2545Lys
ENST00000409809.5:c.7633C>A	ENSP00000386844.1:p.Gln2545Lys
ENST00000472056.5:c.6430C>A	ENSP00000418285.1:p.Gln2144Lys
ENST00000491769.1:n.4693C>A
NM_004369.3:c.8251C>A , LRG_473t1:c.8251C>A	NP_004360.2:p.Gln2751Lys
NM_057166.4:c.6430C>A	NP_476507.3:p.Gln2144Lys
NM_057167.3:c.7633C>A	NP_476508.2:p.Gln2545Lys
XM_005246065.1:c.7651C>A	XP_005246122.1:p.Gln2551Lys
XM_005246066.1:c.7030C>A	XP_005246123.1:p.Gln2344Lys
XM_006712253.1:c.7750C>A	XP_006712316.1:p.Gln2584Lys
XM_011510574.1:c.8248C>A	XP_011508876.1:p.Gln2750Lys
XM_011510575.1:c.5845C>A	XP_011508877.1:p.Gln1949Lys
XM_017003304.1:c.5845C>A	XP_016858793.1:p.Gln1949Lys
XM_024452684.1:c.7030C>A	XP_024308452.1:p.Gln2344Lys
NM_004369.4:c.8251C>A MANE Select	NP_004360.2:p.Gln2751Lys
NM_057166.5:c.6430C>A	NP_476507.3:p.Gln2144Lys
NM_057167.4:c.7633C>A	NP_476508.2:p.Gln2545Lys