Canonical Allele Identifier: CA2187799

Gene: COL6A3

Linked Data

• dbSNP Id: rs113360980
• ExAC: 2:238253196 T / C
• gnomAD v2: 2-238253196-T-C
• gnomAD v4: 2-237344553-T-C
• MyVariant Identifiers: chr2:g.238253196T>C (hg19) ; chr2:g.237344553T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237344553T>C , CM000664.2:g.237344553T>C	GRCh38
NC_000002.11:g.238253196T>C , CM000664.1:g.238253196T>C	GRCh37
NC_000002.10:g.237917935T>C	NCBI36
NG_008676.1:g.74655A>G , LRG_473:g.74655A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.110A>G
ENST00000353578.9:c.6847A>G	ENSP00000315873.4:p.Thr2283Ala
ENST00000295550.9:c.7465A>G MANE Select	ENSP00000295550.4:p.Thr2489Ala
ENST00000295550.8:c.7465A>G	ENSP00000295550.4:p.Thr2489Ala
ENST00000347401.7:c.5641A>G	ENSP00000315609.4:p.Thr1881Ala
ENST00000353578.8:c.6847A>G	ENSP00000315873.4:p.Thr2283Ala
ENST00000409809.5:c.6847A>G	ENSP00000386844.1:p.Thr2283Ala
ENST00000472056.5:c.5644A>G	ENSP00000418285.1:p.Thr1882Ala
ENST00000491769.1:n.1719A>G
NM_004369.3:c.7465A>G , LRG_473t1:c.7465A>G	NP_004360.2:p.Thr2489Ala
NM_057166.4:c.5644A>G	NP_476507.3:p.Thr1882Ala
NM_057167.3:c.6847A>G	NP_476508.2:p.Thr2283Ala
XM_005246065.1:c.6865A>G	XP_005246122.1:p.Thr2289Ala
XM_005246066.1:c.6244A>G	XP_005246123.1:p.Thr2082Ala
XM_006712253.1:c.6964A>G	XP_006712316.1:p.Thr2322Ala
XM_011510574.1:c.7462A>G	XP_011508876.1:p.Thr2488Ala
XM_011510575.1:c.5059A>G	XP_011508877.1:p.Thr1687Ala
XM_017003304.1:c.5059A>G	XP_016858793.1:p.Thr1687Ala
XM_024452684.1:c.6244A>G	XP_024308452.1:p.Thr2082Ala
NM_004369.4:c.7465A>G MANE Select	NP_004360.2:p.Thr2489Ala
NM_057166.5:c.5644A>G	NP_476507.3:p.Thr1882Ala
NM_057167.4:c.6847A>G	NP_476508.2:p.Thr2283Ala