Canonical Allele Identifier: CA351188744

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238243427A>G (hg19) ; chr2:g.237334784A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237334784A>G , CM000664.2:g.237334784A>G	GRCh38
NC_000002.11:g.238243427A>G , CM000664.1:g.238243427A>G	GRCh37
NC_000002.10:g.237908166A>G	NCBI36
NG_008676.1:g.84424T>C , LRG_473:g.84424T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000347401.8:c.1611-1236T>C
ENST00000353578.9:c.8453T>C	ENSP00000315873.4:p.Val2818Ala
ENST00000682957.1:c.1198T>C
ENST00000295550.9:c.9071T>C MANE Select	ENSP00000295550.4:p.Val3024Ala
ENST00000295550.8:c.9071T>C	ENSP00000295550.4:p.Val3024Ala
ENST00000347401.7:c.7247T>C	ENSP00000315609.4:p.Val2416Ala
ENST00000353578.8:c.8453T>C	ENSP00000315873.4:p.Val2818Ala
ENST00000409809.5:c.8453T>C	ENSP00000386844.1:p.Val2818Ala
ENST00000472056.5:c.7250T>C	ENSP00000418285.1:p.Val2417Ala
ENST00000491769.1:n.5513T>C
ENST00000493608.1:n.3T>C
NM_004369.3:c.9071T>C , LRG_473t1:c.9071T>C	NP_004360.2:p.Val3024Ala
NM_057166.4:c.7250T>C	NP_476507.3:p.Val2417Ala
NM_057167.3:c.8453T>C	NP_476508.2:p.Val2818Ala
XM_005246065.1:c.8471T>C	XP_005246122.1:p.Val2824Ala
XM_005246066.1:c.7850T>C	XP_005246123.1:p.Val2617Ala
XM_006712253.1:c.8570T>C	XP_006712316.1:p.Val2857Ala
XM_011510574.1:c.9068T>C	XP_011508876.1:p.Val3023Ala
XM_011510575.1:c.6665T>C	XP_011508877.1:p.Val2222Ala
XM_017003304.1:c.6665T>C	XP_016858793.1:p.Val2222Ala
XM_024452684.1:c.7850T>C	XP_024308452.1:p.Val2617Ala
NM_004369.4:c.9071T>C MANE Select	NP_004360.2:p.Val3024Ala
NM_057166.5:c.7250T>C	NP_476507.3:p.Val2417Ala
NM_057167.4:c.8453T>C	NP_476508.2:p.Val2818Ala