Canonical Allele Identifier: CA351191937

Gene: COL6A3

Linked Data

• dbSNP Id: rs1485359364
• gnomAD v2: 2-238245102-T-G
• gnomAD v3: 2-237336459-T-G
• gnomAD v4: 2-237336459-T-G
• MyVariant Identifiers: chr2:g.238245102T>G (hg19) ; chr2:g.237336459T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336459T>G , CM000664.2:g.237336459T>G	GRCh38
NC_000002.11:g.238245102T>G , CM000664.1:g.238245102T>G	GRCh37
NC_000002.10:g.237909841T>G	NCBI36
NG_008676.1:g.82749A>C , LRG_473:g.82749A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1286A>C
ENST00000353578.9:c.8023A>C	ENSP00000315873.4:p.Lys2675Gln
ENST00000682957.1:c.768A>C
ENST00000684508.1:n.908A>C
ENST00000295550.9:c.8641A>C MANE Select	ENSP00000295550.4:p.Lys2881Gln
ENST00000295550.8:c.8641A>C	ENSP00000295550.4:p.Lys2881Gln
ENST00000347401.7:c.6817A>C	ENSP00000315609.4:p.Lys2273Gln
ENST00000353578.8:c.8023A>C	ENSP00000315873.4:p.Lys2675Gln
ENST00000409809.5:c.8023A>C	ENSP00000386844.1:p.Lys2675Gln
ENST00000472056.5:c.6820A>C	ENSP00000418285.1:p.Lys2274Gln
ENST00000491769.1:n.5083A>C
NM_004369.3:c.8641A>C , LRG_473t1:c.8641A>C	NP_004360.2:p.Lys2881Gln
NM_057166.4:c.6820A>C	NP_476507.3:p.Lys2274Gln
NM_057167.3:c.8023A>C	NP_476508.2:p.Lys2675Gln
XM_005246065.1:c.8041A>C	XP_005246122.1:p.Lys2681Gln
XM_005246066.1:c.7420A>C	XP_005246123.1:p.Lys2474Gln
XM_006712253.1:c.8140A>C	XP_006712316.1:p.Lys2714Gln
XM_011510574.1:c.8638A>C	XP_011508876.1:p.Lys2880Gln
XM_011510575.1:c.6235A>C	XP_011508877.1:p.Lys2079Gln
XM_017003304.1:c.6235A>C	XP_016858793.1:p.Lys2079Gln
XM_024452684.1:c.7420A>C	XP_024308452.1:p.Lys2474Gln
NM_004369.4:c.8641A>C MANE Select	NP_004360.2:p.Lys2881Gln
NM_057166.5:c.6820A>C	NP_476507.3:p.Lys2274Gln
NM_057167.4:c.8023A>C	NP_476508.2:p.Lys2675Gln