Canonical Allele Identifier: CA431710538

Gene: COL6A3

Linked Data

• dbSNP Id: rs2106324918
• MyVariant Identifiers: chr2:g.238253224A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237344581A>G , CM000664.2:g.237344581A>G	GRCh38
NC_000002.11:g.238253224A>G , CM000664.1:g.238253224A>G	GRCh37
NC_000002.10:g.237917963A>G	NCBI36
NG_008676.1:g.74627T>C , LRG_473:g.74627T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.82T>C
ENST00000353578.9:c.6819T>C	ENSP00000315873.4:p.Ala2273=
ENST00000295550.9:c.7437T>C MANE Select	ENSP00000295550.4:p.Ala2479=
ENST00000295550.8:c.7437T>C	ENSP00000295550.4:p.Ala2479=
ENST00000347401.7:c.5613T>C	ENSP00000315609.4:p.Ala1871=
ENST00000353578.8:c.6819T>C	ENSP00000315873.4:p.Ala2273=
ENST00000409809.5:c.6819T>C	ENSP00000386844.1:p.Ala2273=
ENST00000472056.5:c.5616T>C	ENSP00000418285.1:p.Ala1872=
ENST00000491769.1:n.1691T>C
NM_004369.3:c.7437T>C , LRG_473t1:c.7437T>C	NP_004360.2:p.Ala2479=
NM_057166.4:c.5616T>C	NP_476507.3:p.Ala1872=
NM_057167.3:c.6819T>C	NP_476508.2:p.Ala2273=
XM_005246065.1:c.6837T>C	XP_005246122.1:p.Ala2279=
XM_005246066.1:c.6216T>C	XP_005246123.1:p.Ala2072=
XM_006712253.1:c.6936T>C	XP_006712316.1:p.Ala2312=
XM_011510574.1:c.7434T>C	XP_011508876.1:p.Ala2478=
XM_011510575.1:c.5031T>C	XP_011508877.1:p.Ala1677=
XM_017003304.1:c.5031T>C	XP_016858793.1:p.Ala1677=
XM_024452684.1:c.6216T>C	XP_024308452.1:p.Ala2072=
NM_004369.4:c.7437T>C MANE Select	NP_004360.2:p.Ala2479=
NM_057166.5:c.5616T>C	NP_476507.3:p.Ala1872=
NM_057167.4:c.6819T>C	NP_476508.2:p.Ala2273=