Canonical Allele Identifier: CA351201668

Gene: COL6A3

Linked Data

• COSMIC: COSM4882288
• MyVariant Identifiers: chr2:g.238253026C>A (hg19) ; chr2:g.237344383C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237344383C>A , CM000664.2:g.237344383C>A	GRCh38
NC_000002.11:g.238253026C>A , CM000664.1:g.238253026C>A	GRCh37
NC_000002.10:g.237917765C>A	NCBI36
NG_008676.1:g.74825G>T , LRG_473:g.74825G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.280G>T
ENST00000353578.9:c.7017G>T	ENSP00000315873.4:p.Arg2339Ser
ENST00000295550.9:c.7635G>T MANE Select	ENSP00000295550.4:p.Arg2545Ser
ENST00000295550.8:c.7635G>T	ENSP00000295550.4:p.Arg2545Ser
ENST00000347401.7:c.5811G>T	ENSP00000315609.4:p.Arg1937Ser
ENST00000353578.8:c.7017G>T	ENSP00000315873.4:p.Arg2339Ser
ENST00000409809.5:c.7017G>T	ENSP00000386844.1:p.Arg2339Ser
ENST00000472056.5:c.5814G>T	ENSP00000418285.1:p.Arg1938Ser
ENST00000491769.1:n.1889G>T
NM_004369.3:c.7635G>T , LRG_473t1:c.7635G>T	NP_004360.2:p.Arg2545Ser
NM_057166.4:c.5814G>T	NP_476507.3:p.Arg1938Ser
NM_057167.3:c.7017G>T	NP_476508.2:p.Arg2339Ser
XM_005246065.1:c.7035G>T	XP_005246122.1:p.Arg2345Ser
XM_005246066.1:c.6414G>T	XP_005246123.1:p.Arg2138Ser
XM_006712253.1:c.7134G>T	XP_006712316.1:p.Arg2378Ser
XM_011510574.1:c.7632G>T	XP_011508876.1:p.Arg2544Ser
XM_011510575.1:c.5229G>T	XP_011508877.1:p.Arg1743Ser
XM_017003304.1:c.5229G>T	XP_016858793.1:p.Arg1743Ser
XM_024452684.1:c.6414G>T	XP_024308452.1:p.Arg2138Ser
NM_004369.4:c.7635G>T MANE Select	NP_004360.2:p.Arg2545Ser
NM_057166.5:c.5814G>T	NP_476507.3:p.Arg1938Ser
NM_057167.4:c.7017G>T	NP_476508.2:p.Arg2339Ser