Canonical Allele Identifier: CA431674921

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238245139G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336496G>C , CM000664.2:g.237336496G>C	GRCh38
NC_000002.11:g.238245139G>C , CM000664.1:g.238245139G>C	GRCh37
NC_000002.10:g.237909878G>C	NCBI36
NG_008676.1:g.82712C>G , LRG_473:g.82712C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1249C>G
ENST00000353578.9:c.7986C>G	ENSP00000315873.4:p.Ser2662=
ENST00000682957.1:c.731C>G
ENST00000684508.1:n.871C>G
ENST00000295550.9:c.8604C>G MANE Select	ENSP00000295550.4:p.Ser2868=
ENST00000295550.8:c.8604C>G	ENSP00000295550.4:p.Ser2868=
ENST00000347401.7:c.6780C>G	ENSP00000315609.4:p.Ser2260=
ENST00000353578.8:c.7986C>G	ENSP00000315873.4:p.Ser2662=
ENST00000409809.5:c.7986C>G	ENSP00000386844.1:p.Ser2662=
ENST00000472056.5:c.6783C>G	ENSP00000418285.1:p.Ser2261=
ENST00000491769.1:n.5046C>G
NM_004369.3:c.8604C>G , LRG_473t1:c.8604C>G	NP_004360.2:p.Ser2868=
NM_057166.4:c.6783C>G	NP_476507.3:p.Ser2261=
NM_057167.3:c.7986C>G	NP_476508.2:p.Ser2662=
XM_005246065.1:c.8004C>G	XP_005246122.1:p.Ser2668=
XM_005246066.1:c.7383C>G	XP_005246123.1:p.Ser2461=
XM_006712253.1:c.8103C>G	XP_006712316.1:p.Ser2701=
XM_011510574.1:c.8601C>G	XP_011508876.1:p.Ser2867=
XM_011510575.1:c.6198C>G	XP_011508877.1:p.Ser2066=
XM_017003304.1:c.6198C>G	XP_016858793.1:p.Ser2066=
XM_024452684.1:c.7383C>G	XP_024308452.1:p.Ser2461=
NM_004369.4:c.8604C>G MANE Select	NP_004360.2:p.Ser2868=
NM_057166.5:c.6783C>G	NP_476507.3:p.Ser2261=
NM_057167.4:c.7986C>G	NP_476508.2:p.Ser2662=