Canonical Allele Identifier: CA351195068

Gene: COL6A3

Linked Data

• dbSNP Id: rs1440838073
• gnomAD v2: 2-238249205-G-C
• MyVariant Identifiers: chr2:g.238249205G>C (hg19) ; chr2:g.237340562G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237340562G>C , CM000664.2:g.237340562G>C	GRCh38
NC_000002.11:g.238249205G>C , CM000664.1:g.238249205G>C	GRCh37
NC_000002.10:g.237913944G>C	NCBI36
NG_008676.1:g.78646C>G , LRG_473:g.78646C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.999C>G
ENST00000353578.9:c.7736C>G	ENSP00000315873.4:p.Thr2579Ser
ENST00000682957.1:c.357C>G
ENST00000684508.1:n.621C>G
ENST00000295550.9:c.8354C>G MANE Select	ENSP00000295550.4:p.Thr2785Ser
ENST00000295550.8:c.8354C>G	ENSP00000295550.4:p.Thr2785Ser
ENST00000347401.7:c.6530C>G	ENSP00000315609.4:p.Thr2177Ser
ENST00000353578.8:c.7736C>G	ENSP00000315873.4:p.Thr2579Ser
ENST00000409809.5:c.7736C>G	ENSP00000386844.1:p.Thr2579Ser
ENST00000468792.1:n.41C>G
ENST00000472056.5:c.6533C>G	ENSP00000418285.1:p.Thr2178Ser
ENST00000491769.1:n.4796C>G
NM_004369.3:c.8354C>G , LRG_473t1:c.8354C>G	NP_004360.2:p.Thr2785Ser
NM_057166.4:c.6533C>G	NP_476507.3:p.Thr2178Ser
NM_057167.3:c.7736C>G	NP_476508.2:p.Thr2579Ser
XM_005246065.1:c.7754C>G	XP_005246122.1:p.Thr2585Ser
XM_005246066.1:c.7133C>G	XP_005246123.1:p.Thr2378Ser
XM_006712253.1:c.7853C>G	XP_006712316.1:p.Thr2618Ser
XM_011510574.1:c.8351C>G	XP_011508876.1:p.Thr2784Ser
XM_011510575.1:c.5948C>G	XP_011508877.1:p.Thr1983Ser
XM_017003304.1:c.5948C>G	XP_016858793.1:p.Thr1983Ser
XM_024452684.1:c.7133C>G	XP_024308452.1:p.Thr2378Ser
NM_004369.4:c.8354C>G MANE Select	NP_004360.2:p.Thr2785Ser
NM_057166.5:c.6533C>G	NP_476507.3:p.Thr2178Ser
NM_057167.4:c.7736C>G	NP_476508.2:p.Thr2579Ser