Canonical Allele Identifier: CA351201653

Gene: COL6A3

Linked Data

• gnomAD v4: 2-237344381-T-G
• MyVariant Identifiers: chr2:g.238253024T>G (hg19) ; chr2:g.237344381T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237344381T>G , CM000664.2:g.237344381T>G	GRCh38
NC_000002.11:g.238253024T>G , CM000664.1:g.238253024T>G	GRCh37
NC_000002.10:g.237917763T>G	NCBI36
NG_008676.1:g.74827A>C , LRG_473:g.74827A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.282A>C
ENST00000353578.9:c.7019A>C	ENSP00000315873.4:p.Gln2340Pro
ENST00000295550.9:c.7637A>C MANE Select	ENSP00000295550.4:p.Gln2546Pro
ENST00000295550.8:c.7637A>C	ENSP00000295550.4:p.Gln2546Pro
ENST00000347401.7:c.5813A>C	ENSP00000315609.4:p.Gln1938Pro
ENST00000353578.8:c.7019A>C	ENSP00000315873.4:p.Gln2340Pro
ENST00000409809.5:c.7019A>C	ENSP00000386844.1:p.Gln2340Pro
ENST00000472056.5:c.5816A>C	ENSP00000418285.1:p.Gln1939Pro
ENST00000491769.1:n.1891A>C
NM_004369.3:c.7637A>C , LRG_473t1:c.7637A>C	NP_004360.2:p.Gln2546Pro
NM_057166.4:c.5816A>C	NP_476507.3:p.Gln1939Pro
NM_057167.3:c.7019A>C	NP_476508.2:p.Gln2340Pro
XM_005246065.1:c.7037A>C	XP_005246122.1:p.Gln2346Pro
XM_005246066.1:c.6416A>C	XP_005246123.1:p.Gln2139Pro
XM_006712253.1:c.7136A>C	XP_006712316.1:p.Gln2379Pro
XM_011510574.1:c.7634A>C	XP_011508876.1:p.Gln2545Pro
XM_011510575.1:c.5231A>C	XP_011508877.1:p.Gln1744Pro
XM_017003304.1:c.5231A>C	XP_016858793.1:p.Gln1744Pro
XM_024452684.1:c.6416A>C	XP_024308452.1:p.Gln2139Pro
NM_004369.4:c.7637A>C MANE Select	NP_004360.2:p.Gln2546Pro
NM_057166.5:c.5816A>C	NP_476507.3:p.Gln1939Pro
NM_057167.4:c.7019A>C	NP_476508.2:p.Gln2340Pro