Canonical Allele Identifier: CA431701518

Gene: COL6A3

Linked Data

• dbSNP Id: rs1331210511
• gnomAD v2: 2-238249207-G-A
• gnomAD v4: 2-237340564-G-A
• MyVariant Identifiers: chr2:g.238249207G>A (hg19) ; chr2:g.237340564G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237340564G>A , CM000664.2:g.237340564G>A	GRCh38
NC_000002.11:g.238249207G>A , CM000664.1:g.238249207G>A	GRCh37
NC_000002.10:g.237913946G>A	NCBI36
NG_008676.1:g.78644C>T , LRG_473:g.78644C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.997C>T
ENST00000353578.9:c.7734C>T	ENSP00000315873.4:p.Tyr2578=
ENST00000682957.1:c.355C>T
ENST00000684508.1:n.619C>T
ENST00000295550.9:c.8352C>T MANE Select	ENSP00000295550.4:p.Tyr2784=
ENST00000295550.8:c.8352C>T	ENSP00000295550.4:p.Tyr2784=
ENST00000347401.7:c.6528C>T	ENSP00000315609.4:p.Tyr2176=
ENST00000353578.8:c.7734C>T	ENSP00000315873.4:p.Tyr2578=
ENST00000409809.5:c.7734C>T	ENSP00000386844.1:p.Tyr2578=
ENST00000468792.1:n.39C>T
ENST00000472056.5:c.6531C>T	ENSP00000418285.1:p.Tyr2177=
ENST00000491769.1:n.4794C>T
NM_004369.3:c.8352C>T , LRG_473t1:c.8352C>T	NP_004360.2:p.Tyr2784=
NM_057166.4:c.6531C>T	NP_476507.3:p.Tyr2177=
NM_057167.3:c.7734C>T	NP_476508.2:p.Tyr2578=
XM_005246065.1:c.7752C>T	XP_005246122.1:p.Tyr2584=
XM_005246066.1:c.7131C>T	XP_005246123.1:p.Tyr2377=
XM_006712253.1:c.7851C>T	XP_006712316.1:p.Tyr2617=
XM_011510574.1:c.8349C>T	XP_011508876.1:p.Tyr2783=
XM_011510575.1:c.5946C>T	XP_011508877.1:p.Tyr1982=
XM_017003304.1:c.5946C>T	XP_016858793.1:p.Tyr1982=
XM_024452684.1:c.7131C>T	XP_024308452.1:p.Tyr2377=
NM_004369.4:c.8352C>T MANE Select	NP_004360.2:p.Tyr2784=
NM_057166.5:c.6531C>T	NP_476507.3:p.Tyr2177=
NM_057167.4:c.7734C>T	NP_476508.2:p.Tyr2578=