Canonical Allele Identifier: CA2188358

Gene: COL6A3

Linked Data

• dbSNP Id: rs765213888
• ExAC: 2:238268027 G / T
• gnomAD v2: 2-238268027-G-T
• gnomAD v4: 2-237359384-G-T
• MyVariant Identifiers: chr2:g.238268027G>T (hg19) ; chr2:g.237359384G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237359384G>T , CM000664.2:g.237359384G>T	GRCh38
NC_000002.11:g.238268027G>T , CM000664.1:g.238268027G>T	GRCh37
NC_000002.10:g.237932766G>T	NCBI36
NG_008676.1:g.59824C>A , LRG_473:g.59824C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000353578.9:c.5669C>A	ENSP00000315873.4:p.Ser1890Tyr
ENST00000295550.9:c.6287C>A MANE Select	ENSP00000295550.4:p.Ser2096Tyr
ENST00000295550.8:c.6287C>A	ENSP00000295550.4:p.Ser2096Tyr
ENST00000347401.7:c.4466C>A	ENSP00000315609.4:p.Ser1489Tyr
ENST00000353578.8:c.5669C>A	ENSP00000315873.4:p.Ser1890Tyr
ENST00000409809.5:c.5669C>A	ENSP00000386844.1:p.Ser1890Tyr
ENST00000472056.5:c.4466C>A	ENSP00000418285.1:p.Ser1489Tyr
NM_004369.3:c.6287C>A , LRG_473t1:c.6287C>A	NP_004360.2:p.Ser2096Tyr
NM_057166.4:c.4466C>A	NP_476507.3:p.Ser1489Tyr
NM_057167.3:c.5669C>A	NP_476508.2:p.Ser1890Tyr
XM_005246065.1:c.5687C>A	XP_005246122.1:p.Ser1896Tyr
XM_005246066.1:c.5066C>A	XP_005246123.1:p.Ser1689Tyr
XM_006712253.1:c.5786C>A	XP_006712316.1:p.Ser1929Tyr
XM_011510574.1:c.6284C>A	XP_011508876.1:p.Ser2095Tyr
XM_011510575.1:c.3881C>A	XP_011508877.1:p.Ser1294Tyr
XM_017003304.1:c.3881C>A	XP_016858793.1:p.Ser1294Tyr
XM_024452684.1:c.5066C>A	XP_024308452.1:p.Ser1689Tyr
NM_004369.4:c.6287C>A MANE Select	NP_004360.2:p.Ser2096Tyr
NM_057166.5:c.4466C>A	NP_476507.3:p.Ser1489Tyr
NM_057167.4:c.5669C>A	NP_476508.2:p.Ser1890Tyr