Canonical Allele Identifier: CA351202870

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238253205T>G (hg19) ; chr2:g.237344562T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237344562T>G , CM000664.2:g.237344562T>G	GRCh38
NC_000002.11:g.238253205T>G , CM000664.1:g.238253205T>G	GRCh37
NC_000002.10:g.237917944T>G	NCBI36
NG_008676.1:g.74646A>C , LRG_473:g.74646A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.101A>C
ENST00000353578.9:c.6838A>C	ENSP00000315873.4:p.Ser2280Arg
ENST00000295550.9:c.7456A>C MANE Select	ENSP00000295550.4:p.Ser2486Arg
ENST00000295550.8:c.7456A>C	ENSP00000295550.4:p.Ser2486Arg
ENST00000347401.7:c.5632A>C	ENSP00000315609.4:p.Ser1878Arg
ENST00000353578.8:c.6838A>C	ENSP00000315873.4:p.Ser2280Arg
ENST00000409809.5:c.6838A>C	ENSP00000386844.1:p.Ser2280Arg
ENST00000472056.5:c.5635A>C	ENSP00000418285.1:p.Ser1879Arg
ENST00000491769.1:n.1710A>C
NM_004369.3:c.7456A>C , LRG_473t1:c.7456A>C	NP_004360.2:p.Ser2486Arg
NM_057166.4:c.5635A>C	NP_476507.3:p.Ser1879Arg
NM_057167.3:c.6838A>C	NP_476508.2:p.Ser2280Arg
XM_005246065.1:c.6856A>C	XP_005246122.1:p.Ser2286Arg
XM_005246066.1:c.6235A>C	XP_005246123.1:p.Ser2079Arg
XM_006712253.1:c.6955A>C	XP_006712316.1:p.Ser2319Arg
XM_011510574.1:c.7453A>C	XP_011508876.1:p.Ser2485Arg
XM_011510575.1:c.5050A>C	XP_011508877.1:p.Ser1684Arg
XM_017003304.1:c.5050A>C	XP_016858793.1:p.Ser1684Arg
XM_024452684.1:c.6235A>C	XP_024308452.1:p.Ser2079Arg
NM_004369.4:c.7456A>C MANE Select	NP_004360.2:p.Ser2486Arg
NM_057166.5:c.5635A>C	NP_476507.3:p.Ser1879Arg
NM_057167.4:c.6838A>C	NP_476508.2:p.Ser2280Arg