Canonical Allele Identifier: CA431702390

Gene: COL6A3

Linked Data

• dbSNP Id: rs1559194699
• gnomAD v2: 2-238245052-C-T
• MyVariant Identifiers: chr2:g.238245052C>T (hg19) ; chr2:g.238245052_238245073delinsTACAGGCTTTGTTGTGGTGGTT (hg19) ; chr2:g.237336409_237336430delinsTACAGGCTTTGTTGTGGTGGTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336409C>T , CM000664.2:g.237336409C>T	GRCh38
NC_000002.11:g.238245052C>T , CM000664.1:g.238245052C>T	GRCh37
NC_000002.10:g.237909791C>T	NCBI36
NG_008676.1:g.82799G>A , LRG_473:g.82799G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1336G>A
ENST00000353578.9:c.8073G>A	ENSP00000315873.4:p.Val2691=
ENST00000682957.1:c.818G>A
ENST00000684508.1:n.958G>A
ENST00000295550.9:c.8691G>A MANE Select	ENSP00000295550.4:p.Val2897=
ENST00000295550.8:c.8691G>A	ENSP00000295550.4:p.Val2897=
ENST00000347401.7:c.6867G>A	ENSP00000315609.4:p.Val2289=
ENST00000353578.8:c.8073G>A	ENSP00000315873.4:p.Val2691=
ENST00000409809.5:c.8073G>A	ENSP00000386844.1:p.Val2691=
ENST00000472056.5:c.6870G>A	ENSP00000418285.1:p.Val2290=
ENST00000491769.1:n.5133G>A
NM_004369.3:c.8691G>A , LRG_473t1:c.8691G>A	NP_004360.2:p.Val2897=
NM_057166.4:c.6870G>A	NP_476507.3:p.Val2290=
NM_057167.3:c.8073G>A	NP_476508.2:p.Val2691=
XM_005246065.1:c.8091G>A	XP_005246122.1:p.Val2697=
XM_005246066.1:c.7470G>A	XP_005246123.1:p.Val2490=
XM_006712253.1:c.8190G>A	XP_006712316.1:p.Val2730=
XM_011510574.1:c.8688G>A	XP_011508876.1:p.Val2896=
XM_011510575.1:c.6285G>A	XP_011508877.1:p.Val2095=
XM_017003304.1:c.6285G>A	XP_016858793.1:p.Val2095=
XM_024452684.1:c.7470G>A	XP_024308452.1:p.Val2490=
NM_004369.4:c.8691G>A MANE Select	NP_004360.2:p.Val2897=
NM_057166.5:c.6870G>A	NP_476507.3:p.Val2290=
NM_057167.4:c.8073G>A	NP_476508.2:p.Val2691=