Canonical Allele Identifier: CA2187574

Gene: COL6A3

Linked Data

• dbSNP Id: rs767616648
• ExAC: 2:238249216 C / T
• gnomAD v2: 2-238249216-C-T
• gnomAD v4: 2-237340573-C-T
• MyVariant Identifiers: chr2:g.238249216C>T (hg19) ; chr2:g.237340573C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237340573C>T , CM000664.2:g.237340573C>T	GRCh38
NC_000002.11:g.238249216C>T , CM000664.1:g.238249216C>T	GRCh37
NC_000002.10:g.237913955C>T	NCBI36
NG_008676.1:g.78635G>A , LRG_473:g.78635G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.988G>A
ENST00000353578.9:c.7725G>A	ENSP00000315873.4:p.Lys2575=
ENST00000682957.1:c.346G>A
ENST00000684508.1:n.610G>A
ENST00000295550.9:c.8343G>A MANE Select	ENSP00000295550.4:p.Lys2781=
ENST00000295550.8:c.8343G>A	ENSP00000295550.4:p.Lys2781=
ENST00000347401.7:c.6519G>A	ENSP00000315609.4:p.Lys2173=
ENST00000353578.8:c.7725G>A	ENSP00000315873.4:p.Lys2575=
ENST00000409809.5:c.7725G>A	ENSP00000386844.1:p.Lys2575=
ENST00000468792.1:n.30G>A
ENST00000472056.5:c.6522G>A	ENSP00000418285.1:p.Lys2174=
ENST00000491769.1:n.4785G>A
NM_004369.3:c.8343G>A , LRG_473t1:c.8343G>A	NP_004360.2:p.Lys2781=
NM_057166.4:c.6522G>A	NP_476507.3:p.Lys2174=
NM_057167.3:c.7725G>A	NP_476508.2:p.Lys2575=
XM_005246065.1:c.7743G>A	XP_005246122.1:p.Lys2581=
XM_005246066.1:c.7122G>A	XP_005246123.1:p.Lys2374=
XM_006712253.1:c.7842G>A	XP_006712316.1:p.Lys2614=
XM_011510574.1:c.8340G>A	XP_011508876.1:p.Lys2780=
XM_011510575.1:c.5937G>A	XP_011508877.1:p.Lys1979=
XM_017003304.1:c.5937G>A	XP_016858793.1:p.Lys1979=
XM_024452684.1:c.7122G>A	XP_024308452.1:p.Lys2374=
NM_004369.4:c.8343G>A MANE Select	NP_004360.2:p.Lys2781=
NM_057166.5:c.6522G>A	NP_476507.3:p.Lys2174=
NM_057167.4:c.7725G>A	NP_476508.2:p.Lys2575=