Canonical Allele Identifier: CA2187786

Gene: COL6A3

Linked Data

• dbSNP Id: rs772210940
• ExAC: 2:238253120 A / T
• gnomAD v2: 2-238253120-A-T
• MyVariant Identifiers: chr2:g.238253120A>T (hg19) ; chr2:g.237344477A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237344477A>T , CM000664.2:g.237344477A>T	GRCh38
NC_000002.11:g.238253120A>T , CM000664.1:g.238253120A>T	GRCh37
NC_000002.10:g.237917859A>T	NCBI36
NG_008676.1:g.74731T>A , LRG_473:g.74731T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.186T>A
ENST00000353578.9:c.6923T>A	ENSP00000315873.4:p.Phe2308Tyr
ENST00000295550.9:c.7541T>A MANE Select	ENSP00000295550.4:p.Phe2514Tyr
ENST00000295550.8:c.7541T>A	ENSP00000295550.4:p.Phe2514Tyr
ENST00000347401.7:c.5717T>A	ENSP00000315609.4:p.Phe1906Tyr
ENST00000353578.8:c.6923T>A	ENSP00000315873.4:p.Phe2308Tyr
ENST00000409809.5:c.6923T>A	ENSP00000386844.1:p.Phe2308Tyr
ENST00000472056.5:c.5720T>A	ENSP00000418285.1:p.Phe1907Tyr
ENST00000491769.1:n.1795T>A
NM_004369.3:c.7541T>A , LRG_473t1:c.7541T>A	NP_004360.2:p.Phe2514Tyr
NM_057166.4:c.5720T>A	NP_476507.3:p.Phe1907Tyr
NM_057167.3:c.6923T>A	NP_476508.2:p.Phe2308Tyr
XM_005246065.1:c.6941T>A	XP_005246122.1:p.Phe2314Tyr
XM_005246066.1:c.6320T>A	XP_005246123.1:p.Phe2107Tyr
XM_006712253.1:c.7040T>A	XP_006712316.1:p.Phe2347Tyr
XM_011510574.1:c.7538T>A	XP_011508876.1:p.Phe2513Tyr
XM_011510575.1:c.5135T>A	XP_011508877.1:p.Phe1712Tyr
XM_017003304.1:c.5135T>A	XP_016858793.1:p.Phe1712Tyr
XM_024452684.1:c.6320T>A	XP_024308452.1:p.Phe2107Tyr
NM_004369.4:c.7541T>A MANE Select	NP_004360.2:p.Phe2514Tyr
NM_057166.5:c.5720T>A	NP_476507.3:p.Phe1907Tyr
NM_057167.4:c.6923T>A	NP_476508.2:p.Phe2308Tyr