Canonical Allele Identifier: CA2188691

Gene: COL6A3

Linked Data

• dbSNP Id: rs779913331
• ExAC: 2:238275494 C / G
• gnomAD v2: 2-238275494-C-G
• gnomAD v4: 2-237366851-C-G
• MyVariant Identifiers: chr2:g.238275494C>G (hg19) ; chr2:g.237366851C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237366851C>G , CM000664.2:g.237366851C>G	GRCh38
NC_000002.11:g.238275494C>G , CM000664.1:g.238275494C>G	GRCh37
NC_000002.10:g.237940233C>G	NCBI36
NG_008676.1:g.52357G>C , LRG_473:g.52357G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353578.9:c.4718G>C	ENSP00000315873.4:p.Arg1573Thr
ENST00000295550.9:c.5336G>C MANE Select	ENSP00000295550.4:p.Arg1779Thr
ENST00000295550.8:c.5336G>C	ENSP00000295550.4:p.Arg1779Thr
ENST00000347401.7:c.3515G>C	ENSP00000315609.4:p.Arg1172Thr
ENST00000353578.8:c.4718G>C	ENSP00000315873.4:p.Arg1573Thr
ENST00000409809.5:c.4718G>C	ENSP00000386844.1:p.Arg1573Thr
ENST00000472056.5:c.3515G>C	ENSP00000418285.1:p.Arg1172Thr
NM_004369.3:c.5336G>C , LRG_473t1:c.5336G>C	NP_004360.2:p.Arg1779Thr
NM_057166.4:c.3515G>C	NP_476507.3:p.Arg1172Thr
NM_057167.3:c.4718G>C	NP_476508.2:p.Arg1573Thr
XM_005246065.1:c.4736G>C	XP_005246122.1:p.Arg1579Thr
XM_005246066.1:c.4115G>C	XP_005246123.1:p.Arg1372Thr
XM_006712253.1:c.4835G>C	XP_006712316.1:p.Arg1612Thr
XM_011510574.1:c.5333G>C	XP_011508876.1:p.Arg1778Thr
XM_011510575.1:c.2930G>C	XP_011508877.1:p.Arg977Thr
XM_017003304.1:c.2930G>C	XP_016858793.1:p.Arg977Thr
XM_024452684.1:c.4115G>C	XP_024308452.1:p.Arg1372Thr
NM_004369.4:c.5336G>C MANE Select	NP_004360.2:p.Arg1779Thr
NM_057166.5:c.3515G>C	NP_476507.3:p.Arg1172Thr
NM_057167.4:c.4718G>C	NP_476508.2:p.Arg1573Thr