Canonical Allele Identifier: CA351191912

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238245090T>A (hg19) ; chr2:g.237336447T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336447T>A , CM000664.2:g.237336447T>A	GRCh38
NC_000002.11:g.238245090T>A , CM000664.1:g.238245090T>A	GRCh37
NC_000002.10:g.237909829T>A	NCBI36
NG_008676.1:g.82761A>T , LRG_473:g.82761A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1298A>T
ENST00000353578.9:c.8035A>T	ENSP00000315873.4:p.Thr2679Ser
ENST00000682957.1:c.780A>T
ENST00000684508.1:n.920A>T
ENST00000295550.9:c.8653A>T MANE Select	ENSP00000295550.4:p.Thr2885Ser
ENST00000295550.8:c.8653A>T	ENSP00000295550.4:p.Thr2885Ser
ENST00000347401.7:c.6829A>T	ENSP00000315609.4:p.Thr2277Ser
ENST00000353578.8:c.8035A>T	ENSP00000315873.4:p.Thr2679Ser
ENST00000409809.5:c.8035A>T	ENSP00000386844.1:p.Thr2679Ser
ENST00000472056.5:c.6832A>T	ENSP00000418285.1:p.Thr2278Ser
ENST00000491769.1:n.5095A>T
NM_004369.3:c.8653A>T , LRG_473t1:c.8653A>T	NP_004360.2:p.Thr2885Ser
NM_057166.4:c.6832A>T	NP_476507.3:p.Thr2278Ser
NM_057167.3:c.8035A>T	NP_476508.2:p.Thr2679Ser
XM_005246065.1:c.8053A>T	XP_005246122.1:p.Thr2685Ser
XM_005246066.1:c.7432A>T	XP_005246123.1:p.Thr2478Ser
XM_006712253.1:c.8152A>T	XP_006712316.1:p.Thr2718Ser
XM_011510574.1:c.8650A>T	XP_011508876.1:p.Thr2884Ser
XM_011510575.1:c.6247A>T	XP_011508877.1:p.Thr2083Ser
XM_017003304.1:c.6247A>T	XP_016858793.1:p.Thr2083Ser
XM_024452684.1:c.7432A>T	XP_024308452.1:p.Thr2478Ser
NM_004369.4:c.8653A>T MANE Select	NP_004360.2:p.Thr2885Ser
NM_057166.5:c.6832A>T	NP_476507.3:p.Thr2278Ser
NM_057167.4:c.8035A>T	NP_476508.2:p.Thr2679Ser