Canonical Allele Identifier: CA67830406

Gene: COL6A3

Linked Data

• dbSNP Id: rs773820329
• gnomAD v2: 2-238244877-C-G
• gnomAD v3: 2-237336234-C-G
• gnomAD v4: 2-237336234-C-G
• MyVariant Identifiers: chr2:g.238244877C>G (hg19) ; chr2:g.237336234C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336234C>G , CM000664.2:g.237336234C>G	GRCh38
NC_000002.11:g.238244877C>G , CM000664.1:g.238244877C>G	GRCh37
NC_000002.10:g.237909616C>G	NCBI36
NG_008676.1:g.82974G>C , LRG_473:g.82974G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1511G>C
ENST00000353578.9:c.8248G>C	ENSP00000315873.4:p.Ala2750Pro
ENST00000682957.1:c.993G>C
ENST00000684508.1:n.1133G>C
ENST00000295550.9:c.8866G>C MANE Select	ENSP00000295550.4:p.Ala2956Pro
ENST00000295550.8:c.8866G>C	ENSP00000295550.4:p.Ala2956Pro
ENST00000347401.7:c.7042G>C	ENSP00000315609.4:p.Ala2348Pro
ENST00000353578.8:c.8248G>C	ENSP00000315873.4:p.Ala2750Pro
ENST00000409809.5:c.8248G>C	ENSP00000386844.1:p.Ala2750Pro
ENST00000472056.5:c.7045G>C	ENSP00000418285.1:p.Ala2349Pro
ENST00000491769.1:n.5308G>C
NM_004369.3:c.8866G>C , LRG_473t1:c.8866G>C	NP_004360.2:p.Ala2956Pro
NM_057166.4:c.7045G>C	NP_476507.3:p.Ala2349Pro
NM_057167.3:c.8248G>C	NP_476508.2:p.Ala2750Pro
XM_005246065.1:c.8266G>C	XP_005246122.1:p.Ala2756Pro
XM_005246066.1:c.7645G>C	XP_005246123.1:p.Ala2549Pro
XM_006712253.1:c.8365G>C	XP_006712316.1:p.Ala2789Pro
XM_011510574.1:c.8863G>C	XP_011508876.1:p.Ala2955Pro
XM_011510575.1:c.6460G>C	XP_011508877.1:p.Ala2154Pro
XM_017003304.1:c.6460G>C	XP_016858793.1:p.Ala2154Pro
XM_024452684.1:c.7645G>C	XP_024308452.1:p.Ala2549Pro
NM_004369.4:c.8866G>C MANE Select	NP_004360.2:p.Ala2956Pro
NM_057166.5:c.7045G>C	NP_476507.3:p.Ala2349Pro
NM_057167.4:c.8248G>C	NP_476508.2:p.Ala2750Pro