Canonical Allele Identifier: CA431701305

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238244911A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336268A>C , CM000664.2:g.237336268A>C	GRCh38
NC_000002.11:g.238244911A>C , CM000664.1:g.238244911A>C	GRCh37
NC_000002.10:g.237909650A>C	NCBI36
NG_008676.1:g.82940T>G , LRG_473:g.82940T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1477T>G
ENST00000353578.9:c.8214T>G	ENSP00000315873.4:p.Pro2738=
ENST00000682957.1:c.959T>G
ENST00000684508.1:n.1099T>G
ENST00000295550.9:c.8832T>G MANE Select	ENSP00000295550.4:p.Pro2944=
ENST00000295550.8:c.8832T>G	ENSP00000295550.4:p.Pro2944=
ENST00000347401.7:c.7008T>G	ENSP00000315609.4:p.Pro2336=
ENST00000353578.8:c.8214T>G	ENSP00000315873.4:p.Pro2738=
ENST00000409809.5:c.8214T>G	ENSP00000386844.1:p.Pro2738=
ENST00000472056.5:c.7011T>G	ENSP00000418285.1:p.Pro2337=
ENST00000491769.1:n.5274T>G
NM_004369.3:c.8832T>G , LRG_473t1:c.8832T>G	NP_004360.2:p.Pro2944=
NM_057166.4:c.7011T>G	NP_476507.3:p.Pro2337=
NM_057167.3:c.8214T>G	NP_476508.2:p.Pro2738=
XM_005246065.1:c.8232T>G	XP_005246122.1:p.Pro2744=
XM_005246066.1:c.7611T>G	XP_005246123.1:p.Pro2537=
XM_006712253.1:c.8331T>G	XP_006712316.1:p.Pro2777=
XM_011510574.1:c.8829T>G	XP_011508876.1:p.Pro2943=
XM_011510575.1:c.6426T>G	XP_011508877.1:p.Pro2142=
XM_017003304.1:c.6426T>G	XP_016858793.1:p.Pro2142=
XM_024452684.1:c.7611T>G	XP_024308452.1:p.Pro2537=
NM_004369.4:c.8832T>G MANE Select	NP_004360.2:p.Pro2944=
NM_057166.5:c.7011T>G	NP_476507.3:p.Pro2337=
NM_057167.4:c.8214T>G	NP_476508.2:p.Pro2738=