Canonical Allele Identifier: CA351192036

Gene: COL6A3

Linked Data

• ClinVar Variation Id: 1934709
• ClinVar RCV Id: RCV002632150
• MyVariant Identifiers: chr2:g.238245155G>A (hg19) ; chr2:g.237336512G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336512G>A , CM000664.2:g.237336512G>A	GRCh38
NC_000002.11:g.238245155G>A , CM000664.1:g.238245155G>A	GRCh37
NC_000002.10:g.237909894G>A	NCBI36
NG_008676.1:g.82696C>T , LRG_473:g.82696C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1233C>T
ENST00000353578.9:c.7970C>T	ENSP00000315873.4:p.Thr2657Ile
ENST00000682957.1:c.715C>T
ENST00000684508.1:n.855C>T
ENST00000295550.9:c.8588C>T MANE Select	ENSP00000295550.4:p.Thr2863Ile
ENST00000295550.8:c.8588C>T	ENSP00000295550.4:p.Thr2863Ile
ENST00000347401.7:c.6764C>T	ENSP00000315609.4:p.Thr2255Ile
ENST00000353578.8:c.7970C>T	ENSP00000315873.4:p.Thr2657Ile
ENST00000409809.5:c.7970C>T	ENSP00000386844.1:p.Thr2657Ile
ENST00000472056.5:c.6767C>T	ENSP00000418285.1:p.Thr2256Ile
ENST00000491769.1:n.5030C>T
NM_004369.3:c.8588C>T , LRG_473t1:c.8588C>T	NP_004360.2:p.Thr2863Ile
NM_057166.4:c.6767C>T	NP_476507.3:p.Thr2256Ile
NM_057167.3:c.7970C>T	NP_476508.2:p.Thr2657Ile
XM_005246065.1:c.7988C>T	XP_005246122.1:p.Thr2663Ile
XM_005246066.1:c.7367C>T	XP_005246123.1:p.Thr2456Ile
XM_006712253.1:c.8087C>T	XP_006712316.1:p.Thr2696Ile
XM_011510574.1:c.8585C>T	XP_011508876.1:p.Thr2862Ile
XM_011510575.1:c.6182C>T	XP_011508877.1:p.Thr2061Ile
XM_017003304.1:c.6182C>T	XP_016858793.1:p.Thr2061Ile
XM_024452684.1:c.7367C>T	XP_024308452.1:p.Thr2456Ile
NM_004369.4:c.8588C>T MANE Select	NP_004360.2:p.Thr2863Ile
NM_057166.5:c.6767C>T	NP_476507.3:p.Thr2256Ile
NM_057167.4:c.7970C>T	NP_476508.2:p.Thr2657Ile