Canonical Allele Identifier: CA2187422

Gene: COL6A3

Linked Data

• dbSNP Id: rs769449543
• ExAC: 2:238244864 G / C
• gnomAD v2: 2-238244864-G-C
• gnomAD v4: 2-237336221-G-C
• MyVariant Identifiers: chr2:g.238244864G>C (hg19) ; chr2:g.237336221G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336221G>C , CM000664.2:g.237336221G>C	GRCh38
NC_000002.11:g.238244864G>C , CM000664.1:g.238244864G>C	GRCh37
NC_000002.10:g.237909603G>C	NCBI36
NG_008676.1:g.82987C>G , LRG_473:g.82987C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1524C>G
ENST00000353578.9:c.8261C>G	ENSP00000315873.4:p.Ala2754Gly
ENST00000682957.1:c.1006C>G
ENST00000684508.1:n.1146C>G
ENST00000295550.9:c.8879C>G MANE Select	ENSP00000295550.4:p.Ala2960Gly
ENST00000295550.8:c.8879C>G	ENSP00000295550.4:p.Ala2960Gly
ENST00000347401.7:c.7055C>G	ENSP00000315609.4:p.Ala2352Gly
ENST00000353578.8:c.8261C>G	ENSP00000315873.4:p.Ala2754Gly
ENST00000409809.5:c.8261C>G	ENSP00000386844.1:p.Ala2754Gly
ENST00000472056.5:c.7058C>G	ENSP00000418285.1:p.Ala2353Gly
ENST00000491769.1:n.5321C>G
NM_004369.3:c.8879C>G , LRG_473t1:c.8879C>G	NP_004360.2:p.Ala2960Gly
NM_057166.4:c.7058C>G	NP_476507.3:p.Ala2353Gly
NM_057167.3:c.8261C>G	NP_476508.2:p.Ala2754Gly
XM_005246065.1:c.8279C>G	XP_005246122.1:p.Ala2760Gly
XM_005246066.1:c.7658C>G	XP_005246123.1:p.Ala2553Gly
XM_006712253.1:c.8378C>G	XP_006712316.1:p.Ala2793Gly
XM_011510574.1:c.8876C>G	XP_011508876.1:p.Ala2959Gly
XM_011510575.1:c.6473C>G	XP_011508877.1:p.Ala2158Gly
XM_017003304.1:c.6473C>G	XP_016858793.1:p.Ala2158Gly
XM_024452684.1:c.7658C>G	XP_024308452.1:p.Ala2553Gly
NM_004369.4:c.8879C>G MANE Select	NP_004360.2:p.Ala2960Gly
NM_057166.5:c.7058C>G	NP_476507.3:p.Ala2353Gly
NM_057167.4:c.8261C>G	NP_476508.2:p.Ala2754Gly