Canonical Allele Identifier: CA431710416

Gene: COL6A3

Linked Data

• gnomAD v4: 2-237344524-T-C
• MyVariant Identifiers: chr2:g.238253167T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237344524T>C , CM000664.2:g.237344524T>C	GRCh38
NC_000002.11:g.238253167T>C , CM000664.1:g.238253167T>C	GRCh37
NC_000002.10:g.237917906T>C	NCBI36
NG_008676.1:g.74684A>G , LRG_473:g.74684A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.139A>G
ENST00000353578.9:c.6876A>G	ENSP00000315873.4:p.Thr2292=
ENST00000295550.9:c.7494A>G MANE Select	ENSP00000295550.4:p.Thr2498=
ENST00000295550.8:c.7494A>G	ENSP00000295550.4:p.Thr2498=
ENST00000347401.7:c.5670A>G	ENSP00000315609.4:p.Thr1890=
ENST00000353578.8:c.6876A>G	ENSP00000315873.4:p.Thr2292=
ENST00000409809.5:c.6876A>G	ENSP00000386844.1:p.Thr2292=
ENST00000472056.5:c.5673A>G	ENSP00000418285.1:p.Thr1891=
ENST00000491769.1:n.1748A>G
NM_004369.3:c.7494A>G , LRG_473t1:c.7494A>G	NP_004360.2:p.Thr2498=
NM_057166.4:c.5673A>G	NP_476507.3:p.Thr1891=
NM_057167.3:c.6876A>G	NP_476508.2:p.Thr2292=
XM_005246065.1:c.6894A>G	XP_005246122.1:p.Thr2298=
XM_005246066.1:c.6273A>G	XP_005246123.1:p.Thr2091=
XM_006712253.1:c.6993A>G	XP_006712316.1:p.Thr2331=
XM_011510574.1:c.7491A>G	XP_011508876.1:p.Thr2497=
XM_011510575.1:c.5088A>G	XP_011508877.1:p.Thr1696=
XM_017003304.1:c.5088A>G	XP_016858793.1:p.Thr1696=
XM_024452684.1:c.6273A>G	XP_024308452.1:p.Thr2091=
NM_004369.4:c.7494A>G MANE Select	NP_004360.2:p.Thr2498=
NM_057166.5:c.5673A>G	NP_476507.3:p.Thr1891=
NM_057167.4:c.6876A>G	NP_476508.2:p.Thr2292=