Canonical Allele Identifier: CA351190961

Gene: COL6A3

Linked Data

• gnomAD v4: 2-237336162-T-G
• MyVariant Identifiers: chr2:g.238244805T>G (hg19) ; chr2:g.237336162T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336162T>G , CM000664.2:g.237336162T>G	GRCh38
NC_000002.11:g.238244805T>G , CM000664.1:g.238244805T>G	GRCh37
NC_000002.10:g.237909544T>G	NCBI36
NG_008676.1:g.83046A>C , LRG_473:g.83046A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1583A>C
ENST00000353578.9:c.8320A>C	ENSP00000315873.4:p.Thr2774Pro
ENST00000682957.1:c.1065A>C
ENST00000684508.1:n.1205A>C
ENST00000295550.9:c.8938A>C MANE Select	ENSP00000295550.4:p.Thr2980Pro
ENST00000295550.8:c.8938A>C	ENSP00000295550.4:p.Thr2980Pro
ENST00000347401.7:c.7114A>C	ENSP00000315609.4:p.Thr2372Pro
ENST00000353578.8:c.8320A>C	ENSP00000315873.4:p.Thr2774Pro
ENST00000409809.5:c.8320A>C	ENSP00000386844.1:p.Thr2774Pro
ENST00000472056.5:c.7117A>C	ENSP00000418285.1:p.Thr2373Pro
ENST00000491769.1:n.5380A>C
NM_004369.3:c.8938A>C , LRG_473t1:c.8938A>C	NP_004360.2:p.Thr2980Pro
NM_057166.4:c.7117A>C	NP_476507.3:p.Thr2373Pro
NM_057167.3:c.8320A>C	NP_476508.2:p.Thr2774Pro
XM_005246065.1:c.8338A>C	XP_005246122.1:p.Thr2780Pro
XM_005246066.1:c.7717A>C	XP_005246123.1:p.Thr2573Pro
XM_006712253.1:c.8437A>C	XP_006712316.1:p.Thr2813Pro
XM_011510574.1:c.8935A>C	XP_011508876.1:p.Thr2979Pro
XM_011510575.1:c.6532A>C	XP_011508877.1:p.Thr2178Pro
XM_017003304.1:c.6532A>C	XP_016858793.1:p.Thr2178Pro
XM_024452684.1:c.7717A>C	XP_024308452.1:p.Thr2573Pro
NM_004369.4:c.8938A>C MANE Select	NP_004360.2:p.Thr2980Pro
NM_057166.5:c.7117A>C	NP_476507.3:p.Thr2373Pro
NM_057167.4:c.8320A>C	NP_476508.2:p.Thr2774Pro