Canonical Allele Identifier: CA2187392

Gene: COL6A3

Linked Data

• dbSNP Id: rs752116510
• ExAC: 2:238243526 A / G
• gnomAD v2: 2-238243526-A-G
• MyVariant Identifiers: chr2:g.238243526A>G (hg19) ; chr2:g.237334883A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237334883A>G , CM000664.2:g.237334883A>G	GRCh38
NC_000002.11:g.238243526A>G , CM000664.1:g.238243526A>G	GRCh37
NC_000002.10:g.237908265A>G	NCBI36
NG_008676.1:g.84325T>C , LRG_473:g.84325T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000347401.8:c.1610+1252T>C
ENST00000353578.9:c.8354T>C	ENSP00000315873.4:p.Met2785Thr
ENST00000682957.1:c.1099T>C
ENST00000295550.9:c.8972T>C MANE Select	ENSP00000295550.4:p.Met2991Thr
ENST00000295550.8:c.8972T>C	ENSP00000295550.4:p.Met2991Thr
ENST00000347401.7:c.7148T>C	ENSP00000315609.4:p.Met2383Thr
ENST00000353578.8:c.8354T>C	ENSP00000315873.4:p.Met2785Thr
ENST00000409809.5:c.8354T>C	ENSP00000386844.1:p.Met2785Thr
ENST00000472056.5:c.7151T>C	ENSP00000418285.1:p.Met2384Thr
ENST00000491769.1:n.5414T>C
NM_004369.3:c.8972T>C , LRG_473t1:c.8972T>C	NP_004360.2:p.Met2991Thr
NM_057166.4:c.7151T>C	NP_476507.3:p.Met2384Thr
NM_057167.3:c.8354T>C	NP_476508.2:p.Met2785Thr
XM_005246065.1:c.8372T>C	XP_005246122.1:p.Met2791Thr
XM_005246066.1:c.7751T>C	XP_005246123.1:p.Met2584Thr
XM_006712253.1:c.8471T>C	XP_006712316.1:p.Met2824Thr
XM_011510574.1:c.8969T>C	XP_011508876.1:p.Met2990Thr
XM_011510575.1:c.6566T>C	XP_011508877.1:p.Met2189Thr
XM_017003304.1:c.6566T>C	XP_016858793.1:p.Met2189Thr
XM_024452684.1:c.7751T>C	XP_024308452.1:p.Met2584Thr
NM_004369.4:c.8972T>C MANE Select	NP_004360.2:p.Met2991Thr
NM_057166.5:c.7151T>C	NP_476507.3:p.Met2384Thr
NM_057167.4:c.8354T>C	NP_476508.2:p.Met2785Thr