Canonical Allele Identifier: CA351202611

Gene: COL6A3

Linked Data

• gnomAD v4: 2-237344522-A-T
• MyVariant Identifiers: chr2:g.238253165A>T (hg19) ; chr2:g.237344522A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237344522A>T , CM000664.2:g.237344522A>T	GRCh38
NC_000002.11:g.238253165A>T , CM000664.1:g.238253165A>T	GRCh37
NC_000002.10:g.237917904A>T	NCBI36
NG_008676.1:g.74686T>A , LRG_473:g.74686T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.141T>A
ENST00000353578.9:c.6878T>A	ENSP00000315873.4:p.Phe2293Tyr
ENST00000295550.9:c.7496T>A MANE Select	ENSP00000295550.4:p.Phe2499Tyr
ENST00000295550.8:c.7496T>A	ENSP00000295550.4:p.Phe2499Tyr
ENST00000347401.7:c.5672T>A	ENSP00000315609.4:p.Phe1891Tyr
ENST00000353578.8:c.6878T>A	ENSP00000315873.4:p.Phe2293Tyr
ENST00000409809.5:c.6878T>A	ENSP00000386844.1:p.Phe2293Tyr
ENST00000472056.5:c.5675T>A	ENSP00000418285.1:p.Phe1892Tyr
ENST00000491769.1:n.1750T>A
NM_004369.3:c.7496T>A , LRG_473t1:c.7496T>A	NP_004360.2:p.Phe2499Tyr
NM_057166.4:c.5675T>A	NP_476507.3:p.Phe1892Tyr
NM_057167.3:c.6878T>A	NP_476508.2:p.Phe2293Tyr
XM_005246065.1:c.6896T>A	XP_005246122.1:p.Phe2299Tyr
XM_005246066.1:c.6275T>A	XP_005246123.1:p.Phe2092Tyr
XM_006712253.1:c.6995T>A	XP_006712316.1:p.Phe2332Tyr
XM_011510574.1:c.7493T>A	XP_011508876.1:p.Phe2498Tyr
XM_011510575.1:c.5090T>A	XP_011508877.1:p.Phe1697Tyr
XM_017003304.1:c.5090T>A	XP_016858793.1:p.Phe1697Tyr
XM_024452684.1:c.6275T>A	XP_024308452.1:p.Phe2092Tyr
NM_004369.4:c.7496T>A MANE Select	NP_004360.2:p.Phe2499Tyr
NM_057166.5:c.5675T>A	NP_476507.3:p.Phe1892Tyr
NM_057167.4:c.6878T>A	NP_476508.2:p.Phe2293Tyr