Canonical Allele Identifier: CA431710299

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238253074A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237344431A>C , CM000664.2:g.237344431A>C	GRCh38
NC_000002.11:g.238253074A>C , CM000664.1:g.238253074A>C	GRCh37
NC_000002.10:g.237917813A>C	NCBI36
NG_008676.1:g.74777T>G , LRG_473:g.74777T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000347401.8:c.232T>G
ENST00000353578.9:c.6969T>G	ENSP00000315873.4:p.Ala2323=
ENST00000295550.9:c.7587T>G MANE Select	ENSP00000295550.4:p.Ala2529=
ENST00000295550.8:c.7587T>G	ENSP00000295550.4:p.Ala2529=
ENST00000347401.7:c.5763T>G	ENSP00000315609.4:p.Ala1921=
ENST00000353578.8:c.6969T>G	ENSP00000315873.4:p.Ala2323=
ENST00000409809.5:c.6969T>G	ENSP00000386844.1:p.Ala2323=
ENST00000472056.5:c.5766T>G	ENSP00000418285.1:p.Ala1922=
ENST00000491769.1:n.1841T>G
NM_004369.3:c.7587T>G , LRG_473t1:c.7587T>G	NP_004360.2:p.Ala2529=
NM_057166.4:c.5766T>G	NP_476507.3:p.Ala1922=
NM_057167.3:c.6969T>G	NP_476508.2:p.Ala2323=
XM_005246065.1:c.6987T>G	XP_005246122.1:p.Ala2329=
XM_005246066.1:c.6366T>G	XP_005246123.1:p.Ala2122=
XM_006712253.1:c.7086T>G	XP_006712316.1:p.Ala2362=
XM_011510574.1:c.7584T>G	XP_011508876.1:p.Ala2528=
XM_011510575.1:c.5181T>G	XP_011508877.1:p.Ala1727=
XM_017003304.1:c.5181T>G	XP_016858793.1:p.Ala1727=
XM_024452684.1:c.6366T>G	XP_024308452.1:p.Ala2122=
NM_004369.4:c.7587T>G MANE Select	NP_004360.2:p.Ala2529=
NM_057166.5:c.5766T>G	NP_476507.3:p.Ala1922=
NM_057167.4:c.6969T>G	NP_476508.2:p.Ala2323=