Canonical Allele Identifier: CA431701675

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238244953A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336310A>C , CM000664.2:g.237336310A>C	GRCh38
NC_000002.11:g.238244953A>C , CM000664.1:g.238244953A>C	GRCh37
NC_000002.10:g.237909692A>C	NCBI36
NG_008676.1:g.82898T>G , LRG_473:g.82898T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1435T>G
ENST00000353578.9:c.8172T>G	ENSP00000315873.4:p.Val2724=
ENST00000682957.1:c.917T>G
ENST00000684508.1:n.1057T>G
ENST00000295550.9:c.8790T>G MANE Select	ENSP00000295550.4:p.Val2930=
ENST00000295550.8:c.8790T>G	ENSP00000295550.4:p.Val2930=
ENST00000347401.7:c.6966T>G	ENSP00000315609.4:p.Val2322=
ENST00000353578.8:c.8172T>G	ENSP00000315873.4:p.Val2724=
ENST00000409809.5:c.8172T>G	ENSP00000386844.1:p.Val2724=
ENST00000472056.5:c.6969T>G	ENSP00000418285.1:p.Val2323=
ENST00000491769.1:n.5232T>G
NM_004369.3:c.8790T>G , LRG_473t1:c.8790T>G	NP_004360.2:p.Val2930=
NM_057166.4:c.6969T>G	NP_476507.3:p.Val2323=
NM_057167.3:c.8172T>G	NP_476508.2:p.Val2724=
XM_005246065.1:c.8190T>G	XP_005246122.1:p.Val2730=
XM_005246066.1:c.7569T>G	XP_005246123.1:p.Val2523=
XM_006712253.1:c.8289T>G	XP_006712316.1:p.Val2763=
XM_011510574.1:c.8787T>G	XP_011508876.1:p.Val2929=
XM_011510575.1:c.6384T>G	XP_011508877.1:p.Val2128=
XM_017003304.1:c.6384T>G	XP_016858793.1:p.Val2128=
XM_024452684.1:c.7569T>G	XP_024308452.1:p.Val2523=
NM_004369.4:c.8790T>G MANE Select	NP_004360.2:p.Val2930=
NM_057166.5:c.6969T>G	NP_476507.3:p.Val2323=
NM_057167.4:c.8172T>G	NP_476508.2:p.Val2724=