Canonical Allele Identifier: CA431710297

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238253071C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237344428C>A , CM000664.2:g.237344428C>A	GRCh38
NC_000002.11:g.238253071C>A , CM000664.1:g.238253071C>A	GRCh37
NC_000002.10:g.237917810C>A	NCBI36
NG_008676.1:g.74780G>T , LRG_473:g.74780G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000347401.8:c.235G>T
ENST00000353578.9:c.6972G>T	ENSP00000315873.4:p.Val2324=
ENST00000295550.9:c.7590G>T MANE Select	ENSP00000295550.4:p.Val2530=
ENST00000295550.8:c.7590G>T	ENSP00000295550.4:p.Val2530=
ENST00000347401.7:c.5766G>T	ENSP00000315609.4:p.Val1922=
ENST00000353578.8:c.6972G>T	ENSP00000315873.4:p.Val2324=
ENST00000409809.5:c.6972G>T	ENSP00000386844.1:p.Val2324=
ENST00000472056.5:c.5769G>T	ENSP00000418285.1:p.Val1923=
ENST00000491769.1:n.1844G>T
NM_004369.3:c.7590G>T , LRG_473t1:c.7590G>T	NP_004360.2:p.Val2530=
NM_057166.4:c.5769G>T	NP_476507.3:p.Val1923=
NM_057167.3:c.6972G>T	NP_476508.2:p.Val2324=
XM_005246065.1:c.6990G>T	XP_005246122.1:p.Val2330=
XM_005246066.1:c.6369G>T	XP_005246123.1:p.Val2123=
XM_006712253.1:c.7089G>T	XP_006712316.1:p.Val2363=
XM_011510574.1:c.7587G>T	XP_011508876.1:p.Val2529=
XM_011510575.1:c.5184G>T	XP_011508877.1:p.Val1728=
XM_017003304.1:c.5184G>T	XP_016858793.1:p.Val1728=
XM_024452684.1:c.6369G>T	XP_024308452.1:p.Val2123=
NM_004369.4:c.7590G>T MANE Select	NP_004360.2:p.Val2530=
NM_057166.5:c.5769G>T	NP_476507.3:p.Val1923=
NM_057167.4:c.6972G>T	NP_476508.2:p.Val2324=