Canonical Allele Identifier: CA2188392

Gene: COL6A3

Linked Data

• dbSNP Id: rs760114479
• ExAC: 2:238268772 T / A
• gnomAD v2: 2-238268772-T-A
• gnomAD v3: 2-237360129-T-A
• gnomAD v4: 2-237360129-T-A
• MyVariant Identifiers: chr2:g.238268772T>A (hg19) ; chr2:g.237360129T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237360129T>A , CM000664.2:g.237360129T>A	GRCh38
NC_000002.11:g.238268772T>A , CM000664.1:g.238268772T>A	GRCh37
NC_000002.10:g.237933511T>A	NCBI36
NG_008676.1:g.59079A>T , LRG_473:g.59079A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353578.9:c.5623A>T	ENSP00000315873.4:p.Thr1875Ser
ENST00000295550.9:c.6241A>T MANE Select	ENSP00000295550.4:p.Thr2081Ser
ENST00000295550.8:c.6241A>T	ENSP00000295550.4:p.Thr2081Ser
ENST00000347401.7:c.4420A>T	ENSP00000315609.4:p.Thr1474Ser
ENST00000353578.8:c.5623A>T	ENSP00000315873.4:p.Thr1875Ser
ENST00000409809.5:c.5623A>T	ENSP00000386844.1:p.Thr1875Ser
ENST00000472056.5:c.4420A>T	ENSP00000418285.1:p.Thr1474Ser
NM_004369.3:c.6241A>T , LRG_473t1:c.6241A>T	NP_004360.2:p.Thr2081Ser
NM_057166.4:c.4420A>T	NP_476507.3:p.Thr1474Ser
NM_057167.3:c.5623A>T	NP_476508.2:p.Thr1875Ser
XM_005246065.1:c.5641A>T	XP_005246122.1:p.Thr1881Ser
XM_005246066.1:c.5020A>T	XP_005246123.1:p.Thr1674Ser
XM_006712253.1:c.5740A>T	XP_006712316.1:p.Thr1914Ser
XM_011510574.1:c.6238A>T	XP_011508876.1:p.Thr2080Ser
XM_011510575.1:c.3835A>T	XP_011508877.1:p.Thr1279Ser
XM_017003304.1:c.3835A>T	XP_016858793.1:p.Thr1279Ser
XM_024452684.1:c.5020A>T	XP_024308452.1:p.Thr1674Ser
NM_004369.4:c.6241A>T MANE Select	NP_004360.2:p.Thr2081Ser
NM_057166.5:c.4420A>T	NP_476507.3:p.Thr1474Ser
NM_057167.4:c.5623A>T	NP_476508.2:p.Thr1875Ser