Canonical Allele Identifier: CA351191190

Gene: COL6A3

Linked Data

• gnomAD v4: 2-237336230-G-C
• MyVariant Identifiers: chr2:g.238244873G>C (hg19) ; chr2:g.237336230G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336230G>C , CM000664.2:g.237336230G>C	GRCh38
NC_000002.11:g.238244873G>C , CM000664.1:g.238244873G>C	GRCh37
NC_000002.10:g.237909612G>C	NCBI36
NG_008676.1:g.82978C>G , LRG_473:g.82978C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1515C>G
ENST00000353578.9:c.8252C>G	ENSP00000315873.4:p.Ala2751Gly
ENST00000682957.1:c.997C>G
ENST00000684508.1:n.1137C>G
ENST00000295550.9:c.8870C>G MANE Select	ENSP00000295550.4:p.Ala2957Gly
ENST00000295550.8:c.8870C>G	ENSP00000295550.4:p.Ala2957Gly
ENST00000347401.7:c.7046C>G	ENSP00000315609.4:p.Ala2349Gly
ENST00000353578.8:c.8252C>G	ENSP00000315873.4:p.Ala2751Gly
ENST00000409809.5:c.8252C>G	ENSP00000386844.1:p.Ala2751Gly
ENST00000472056.5:c.7049C>G	ENSP00000418285.1:p.Ala2350Gly
ENST00000491769.1:n.5312C>G
NM_004369.3:c.8870C>G , LRG_473t1:c.8870C>G	NP_004360.2:p.Ala2957Gly
NM_057166.4:c.7049C>G	NP_476507.3:p.Ala2350Gly
NM_057167.3:c.8252C>G	NP_476508.2:p.Ala2751Gly
XM_005246065.1:c.8270C>G	XP_005246122.1:p.Ala2757Gly
XM_005246066.1:c.7649C>G	XP_005246123.1:p.Ala2550Gly
XM_006712253.1:c.8369C>G	XP_006712316.1:p.Ala2790Gly
XM_011510574.1:c.8867C>G	XP_011508876.1:p.Ala2956Gly
XM_011510575.1:c.6464C>G	XP_011508877.1:p.Ala2155Gly
XM_017003304.1:c.6464C>G	XP_016858793.1:p.Ala2155Gly
XM_024452684.1:c.7649C>G	XP_024308452.1:p.Ala2550Gly
NM_004369.4:c.8870C>G MANE Select	NP_004360.2:p.Ala2957Gly
NM_057166.5:c.7049C>G	NP_476507.3:p.Ala2350Gly
NM_057167.4:c.8252C>G	NP_476508.2:p.Ala2751Gly