Canonical Allele Identifier: CA431710383

Gene: COL6A3

Linked Data

• COSMIC: COSM5652788
• MyVariant Identifiers: chr2:g.238253155C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237344512C>G , CM000664.2:g.237344512C>G	GRCh38
NC_000002.11:g.238253155C>G , CM000664.1:g.238253155C>G	GRCh37
NC_000002.10:g.237917894C>G	NCBI36
NG_008676.1:g.74696G>C , LRG_473:g.74696G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.151G>C
ENST00000353578.9:c.6888G>C	ENSP00000315873.4:p.Val2296=
ENST00000295550.9:c.7506G>C MANE Select	ENSP00000295550.4:p.Val2502=
ENST00000295550.8:c.7506G>C	ENSP00000295550.4:p.Val2502=
ENST00000347401.7:c.5682G>C	ENSP00000315609.4:p.Val1894=
ENST00000353578.8:c.6888G>C	ENSP00000315873.4:p.Val2296=
ENST00000409809.5:c.6888G>C	ENSP00000386844.1:p.Val2296=
ENST00000472056.5:c.5685G>C	ENSP00000418285.1:p.Val1895=
ENST00000491769.1:n.1760G>C
NM_004369.3:c.7506G>C , LRG_473t1:c.7506G>C	NP_004360.2:p.Val2502=
NM_057166.4:c.5685G>C	NP_476507.3:p.Val1895=
NM_057167.3:c.6888G>C	NP_476508.2:p.Val2296=
XM_005246065.1:c.6906G>C	XP_005246122.1:p.Val2302=
XM_005246066.1:c.6285G>C	XP_005246123.1:p.Val2095=
XM_006712253.1:c.7005G>C	XP_006712316.1:p.Val2335=
XM_011510574.1:c.7503G>C	XP_011508876.1:p.Val2501=
XM_011510575.1:c.5100G>C	XP_011508877.1:p.Val1700=
XM_017003304.1:c.5100G>C	XP_016858793.1:p.Val1700=
XM_024452684.1:c.6285G>C	XP_024308452.1:p.Val2095=
NM_004369.4:c.7506G>C MANE Select	NP_004360.2:p.Val2502=
NM_057166.5:c.5685G>C	NP_476507.3:p.Val1895=
NM_057167.4:c.6888G>C	NP_476508.2:p.Val2296=