Canonical Allele Identifier: CA351194502

Gene: COL6A3

Linked Data

• dbSNP Id: rs371361651
• gnomAD v2: 2-238249128-G-T
• gnomAD v4: 2-237340485-G-T
• MyVariant Identifiers: chr2:g.238249128G>T (hg19) ; chr2:g.237340485G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237340485G>T , CM000664.2:g.237340485G>T	GRCh38
NC_000002.11:g.238249128G>T , CM000664.1:g.238249128G>T	GRCh37
NC_000002.10:g.237913867G>T	NCBI36
NG_008676.1:g.78723C>A , LRG_473:g.78723C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1076C>A
ENST00000353578.9:c.7813C>A	ENSP00000315873.4:p.Arg2605Ser
ENST00000682957.1:c.434C>A
ENST00000684508.1:n.698C>A
ENST00000295550.9:c.8431C>A MANE Select	ENSP00000295550.4:p.Arg2811Ser
ENST00000295550.8:c.8431C>A	ENSP00000295550.4:p.Arg2811Ser
ENST00000347401.7:c.6607C>A	ENSP00000315609.4:p.Arg2203Ser
ENST00000353578.8:c.7813C>A	ENSP00000315873.4:p.Arg2605Ser
ENST00000409809.5:c.7813C>A	ENSP00000386844.1:p.Arg2605Ser
ENST00000468792.1:n.118C>A
ENST00000472056.5:c.6610C>A	ENSP00000418285.1:p.Arg2204Ser
ENST00000491769.1:n.4873C>A
NM_004369.3:c.8431C>A , LRG_473t1:c.8431C>A	NP_004360.2:p.Arg2811Ser
NM_057166.4:c.6610C>A	NP_476507.3:p.Arg2204Ser
NM_057167.3:c.7813C>A	NP_476508.2:p.Arg2605Ser
XM_005246065.1:c.7831C>A	XP_005246122.1:p.Arg2611Ser
XM_005246066.1:c.7210C>A	XP_005246123.1:p.Arg2404Ser
XM_006712253.1:c.7930C>A	XP_006712316.1:p.Arg2644Ser
XM_011510574.1:c.8428C>A	XP_011508876.1:p.Arg2810Ser
XM_011510575.1:c.6025C>A	XP_011508877.1:p.Arg2009Ser
XM_017003304.1:c.6025C>A	XP_016858793.1:p.Arg2009Ser
XM_024452684.1:c.7210C>A	XP_024308452.1:p.Arg2404Ser
NM_004369.4:c.8431C>A MANE Select	NP_004360.2:p.Arg2811Ser
NM_057166.5:c.6610C>A	NP_476507.3:p.Arg2204Ser
NM_057167.4:c.7813C>A	NP_476508.2:p.Arg2605Ser