Canonical Allele Identifier: CA351188737

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238243425T>G (hg19) ; chr2:g.237334782T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237334782T>G , CM000664.2:g.237334782T>G	GRCh38
NC_000002.11:g.238243425T>G , CM000664.1:g.238243425T>G	GRCh37
NC_000002.10:g.237908164T>G	NCBI36
NG_008676.1:g.84426A>C , LRG_473:g.84426A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000347401.8:c.1611-1234A>C
ENST00000353578.9:c.8455A>C	ENSP00000315873.4:p.Thr2819Pro
ENST00000682957.1:c.1200A>C
ENST00000295550.9:c.9073A>C MANE Select	ENSP00000295550.4:p.Thr3025Pro
ENST00000295550.8:c.9073A>C	ENSP00000295550.4:p.Thr3025Pro
ENST00000347401.7:c.7249A>C	ENSP00000315609.4:p.Thr2417Pro
ENST00000353578.8:c.8455A>C	ENSP00000315873.4:p.Thr2819Pro
ENST00000409809.5:c.8455A>C	ENSP00000386844.1:p.Thr2819Pro
ENST00000472056.5:c.7252A>C	ENSP00000418285.1:p.Thr2418Pro
ENST00000491769.1:n.5515A>C
ENST00000493608.1:n.5A>C
NM_004369.3:c.9073A>C , LRG_473t1:c.9073A>C	NP_004360.2:p.Thr3025Pro
NM_057166.4:c.7252A>C	NP_476507.3:p.Thr2418Pro
NM_057167.3:c.8455A>C	NP_476508.2:p.Thr2819Pro
XM_005246065.1:c.8473A>C	XP_005246122.1:p.Thr2825Pro
XM_005246066.1:c.7852A>C	XP_005246123.1:p.Thr2618Pro
XM_006712253.1:c.8572A>C	XP_006712316.1:p.Thr2858Pro
XM_011510574.1:c.9070A>C	XP_011508876.1:p.Thr3024Pro
XM_011510575.1:c.6667A>C	XP_011508877.1:p.Thr2223Pro
XM_017003304.1:c.6667A>C	XP_016858793.1:p.Thr2223Pro
XM_024452684.1:c.7852A>C	XP_024308452.1:p.Thr2618Pro
NM_004369.4:c.9073A>C MANE Select	NP_004360.2:p.Thr3025Pro
NM_057166.5:c.7252A>C	NP_476507.3:p.Thr2418Pro
NM_057167.4:c.8455A>C	NP_476508.2:p.Thr2819Pro