Canonical Allele Identifier: CA351201434

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238252994T>G (hg19) ; chr2:g.237344351T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237344351T>G , CM000664.2:g.237344351T>G	GRCh38
NC_000002.11:g.238252994T>G , CM000664.1:g.238252994T>G	GRCh37
NC_000002.10:g.237917733T>G	NCBI36
NG_008676.1:g.74857A>C , LRG_473:g.74857A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000347401.8:c.312A>C
ENST00000353578.9:c.7049A>C	ENSP00000315873.4:p.Gln2350Pro
ENST00000295550.9:c.7667A>C MANE Select	ENSP00000295550.4:p.Gln2556Pro
ENST00000295550.8:c.7667A>C	ENSP00000295550.4:p.Gln2556Pro
ENST00000347401.7:c.5843A>C	ENSP00000315609.4:p.Gln1948Pro
ENST00000353578.8:c.7049A>C	ENSP00000315873.4:p.Gln2350Pro
ENST00000409809.5:c.7049A>C	ENSP00000386844.1:p.Gln2350Pro
ENST00000472056.5:c.5846A>C	ENSP00000418285.1:p.Gln1949Pro
ENST00000491769.1:n.1921A>C
NM_004369.3:c.7667A>C , LRG_473t1:c.7667A>C	NP_004360.2:p.Gln2556Pro
NM_057166.4:c.5846A>C	NP_476507.3:p.Gln1949Pro
NM_057167.3:c.7049A>C	NP_476508.2:p.Gln2350Pro
XM_005246065.1:c.7067A>C	XP_005246122.1:p.Gln2356Pro
XM_005246066.1:c.6446A>C	XP_005246123.1:p.Gln2149Pro
XM_006712253.1:c.7166A>C	XP_006712316.1:p.Gln2389Pro
XM_011510574.1:c.7664A>C	XP_011508876.1:p.Gln2555Pro
XM_011510575.1:c.5261A>C	XP_011508877.1:p.Gln1754Pro
XM_017003304.1:c.5261A>C	XP_016858793.1:p.Gln1754Pro
XM_024452684.1:c.6446A>C	XP_024308452.1:p.Gln2149Pro
NM_004369.4:c.7667A>C MANE Select	NP_004360.2:p.Gln2556Pro
NM_057166.5:c.5846A>C	NP_476507.3:p.Gln1949Pro
NM_057167.4:c.7049A>C	NP_476508.2:p.Gln2350Pro