Canonical Allele Identifier: CA2187562

Gene: COL6A3

Linked Data

• ClinVar Variation Id: 499043
• ClinVar RCV Id: RCV000593637 ; RCV001216322
• dbSNP Id: rs749169391
• ExAC: 2:238249166 A / G
• gnomAD v2: 2-238249166-A-G
• gnomAD v3: 2-237340523-A-G
• gnomAD v4: 2-237340523-A-G
• MyVariant Identifiers: chr2:g.238249166A>G (hg19) ; chr2:g.237340523A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237340523A>G , CM000664.2:g.237340523A>G	GRCh38
NC_000002.11:g.238249166A>G , CM000664.1:g.238249166A>G	GRCh37
NC_000002.10:g.237913905A>G	NCBI36
NG_008676.1:g.78685T>C , LRG_473:g.78685T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1038T>C
ENST00000353578.9:c.7775T>C	ENSP00000315873.4:p.Val2592Ala
ENST00000682957.1:c.396T>C
ENST00000684508.1:n.660T>C
ENST00000295550.9:c.8393T>C MANE Select	ENSP00000295550.4:p.Val2798Ala
ENST00000295550.8:c.8393T>C	ENSP00000295550.4:p.Val2798Ala
ENST00000347401.7:c.6569T>C	ENSP00000315609.4:p.Val2190Ala
ENST00000353578.8:c.7775T>C	ENSP00000315873.4:p.Val2592Ala
ENST00000409809.5:c.7775T>C	ENSP00000386844.1:p.Val2592Ala
ENST00000468792.1:n.80T>C
ENST00000472056.5:c.6572T>C	ENSP00000418285.1:p.Val2191Ala
ENST00000491769.1:n.4835T>C
NM_004369.3:c.8393T>C , LRG_473t1:c.8393T>C	NP_004360.2:p.Val2798Ala
NM_057166.4:c.6572T>C	NP_476507.3:p.Val2191Ala
NM_057167.3:c.7775T>C	NP_476508.2:p.Val2592Ala
XM_005246065.1:c.7793T>C	XP_005246122.1:p.Val2598Ala
XM_005246066.1:c.7172T>C	XP_005246123.1:p.Val2391Ala
XM_006712253.1:c.7892T>C	XP_006712316.1:p.Val2631Ala
XM_011510574.1:c.8390T>C	XP_011508876.1:p.Val2797Ala
XM_011510575.1:c.5987T>C	XP_011508877.1:p.Val1996Ala
XM_017003304.1:c.5987T>C	XP_016858793.1:p.Val1996Ala
XM_024452684.1:c.7172T>C	XP_024308452.1:p.Val2391Ala
NM_004369.4:c.8393T>C MANE Select	NP_004360.2:p.Val2798Ala
NM_057166.5:c.6572T>C	NP_476507.3:p.Val2191Ala
NM_057167.4:c.7775T>C	NP_476508.2:p.Val2592Ala