Canonical Allele Identifier: CA351191037

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238244825T>A (hg19) ; chr2:g.237336182T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336182T>A , CM000664.2:g.237336182T>A	GRCh38
NC_000002.11:g.238244825T>A , CM000664.1:g.238244825T>A	GRCh37
NC_000002.10:g.237909564T>A	NCBI36
NG_008676.1:g.83026A>T , LRG_473:g.83026A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1563A>T
ENST00000353578.9:c.8300A>T	ENSP00000315873.4:p.Gln2767Leu
ENST00000682957.1:c.1045A>T
ENST00000684508.1:n.1185A>T
ENST00000295550.9:c.8918A>T MANE Select	ENSP00000295550.4:p.Gln2973Leu
ENST00000295550.8:c.8918A>T	ENSP00000295550.4:p.Gln2973Leu
ENST00000347401.7:c.7094A>T	ENSP00000315609.4:p.Gln2365Leu
ENST00000353578.8:c.8300A>T	ENSP00000315873.4:p.Gln2767Leu
ENST00000409809.5:c.8300A>T	ENSP00000386844.1:p.Gln2767Leu
ENST00000472056.5:c.7097A>T	ENSP00000418285.1:p.Gln2366Leu
ENST00000491769.1:n.5360A>T
NM_004369.3:c.8918A>T , LRG_473t1:c.8918A>T	NP_004360.2:p.Gln2973Leu
NM_057166.4:c.7097A>T	NP_476507.3:p.Gln2366Leu
NM_057167.3:c.8300A>T	NP_476508.2:p.Gln2767Leu
XM_005246065.1:c.8318A>T	XP_005246122.1:p.Gln2773Leu
XM_005246066.1:c.7697A>T	XP_005246123.1:p.Gln2566Leu
XM_006712253.1:c.8417A>T	XP_006712316.1:p.Gln2806Leu
XM_011510574.1:c.8915A>T	XP_011508876.1:p.Gln2972Leu
XM_011510575.1:c.6512A>T	XP_011508877.1:p.Gln2171Leu
XM_017003304.1:c.6512A>T	XP_016858793.1:p.Gln2171Leu
XM_024452684.1:c.7697A>T	XP_024308452.1:p.Gln2566Leu
NM_004369.4:c.8918A>T MANE Select	NP_004360.2:p.Gln2973Leu
NM_057166.5:c.7097A>T	NP_476507.3:p.Gln2366Leu
NM_057167.4:c.8300A>T	NP_476508.2:p.Gln2767Leu