Canonical Allele Identifier: CA351202061

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238253087T>G (hg19) ; chr2:g.237344444T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237344444T>G , CM000664.2:g.237344444T>G	GRCh38
NC_000002.11:g.238253087T>G , CM000664.1:g.238253087T>G	GRCh37
NC_000002.10:g.237917826T>G	NCBI36
NG_008676.1:g.74764A>C , LRG_473:g.74764A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.219A>C
ENST00000353578.9:c.6956A>C	ENSP00000315873.4:p.Gln2319Pro
ENST00000295550.9:c.7574A>C MANE Select	ENSP00000295550.4:p.Gln2525Pro
ENST00000295550.8:c.7574A>C	ENSP00000295550.4:p.Gln2525Pro
ENST00000347401.7:c.5750A>C	ENSP00000315609.4:p.Gln1917Pro
ENST00000353578.8:c.6956A>C	ENSP00000315873.4:p.Gln2319Pro
ENST00000409809.5:c.6956A>C	ENSP00000386844.1:p.Gln2319Pro
ENST00000472056.5:c.5753A>C	ENSP00000418285.1:p.Gln1918Pro
ENST00000491769.1:n.1828A>C
NM_004369.3:c.7574A>C , LRG_473t1:c.7574A>C	NP_004360.2:p.Gln2525Pro
NM_057166.4:c.5753A>C	NP_476507.3:p.Gln1918Pro
NM_057167.3:c.6956A>C	NP_476508.2:p.Gln2319Pro
XM_005246065.1:c.6974A>C	XP_005246122.1:p.Gln2325Pro
XM_005246066.1:c.6353A>C	XP_005246123.1:p.Gln2118Pro
XM_006712253.1:c.7073A>C	XP_006712316.1:p.Gln2358Pro
XM_011510574.1:c.7571A>C	XP_011508876.1:p.Gln2524Pro
XM_011510575.1:c.5168A>C	XP_011508877.1:p.Gln1723Pro
XM_017003304.1:c.5168A>C	XP_016858793.1:p.Gln1723Pro
XM_024452684.1:c.6353A>C	XP_024308452.1:p.Gln2118Pro
NM_004369.4:c.7574A>C MANE Select	NP_004360.2:p.Gln2525Pro
NM_057166.5:c.5753A>C	NP_476507.3:p.Gln1918Pro
NM_057167.4:c.6956A>C	NP_476508.2:p.Gln2319Pro