Canonical Allele Identifier: CA351189657

Gene: COL6A3

Linked Data

• gnomAD v4: 2-237334882-C-T
• MyVariant Identifiers: chr2:g.238243525C>T (hg19) ; chr2:g.237334882C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237334882C>T , CM000664.2:g.237334882C>T	GRCh38
NC_000002.11:g.238243525C>T , CM000664.1:g.238243525C>T	GRCh37
NC_000002.10:g.237908264C>T	NCBI36
NG_008676.1:g.84326G>A , LRG_473:g.84326G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000347401.8:c.1610+1253G>A
ENST00000353578.9:c.8355G>A	ENSP00000315873.4:p.Met2785Ile
ENST00000682957.1:c.1100G>A
ENST00000295550.9:c.8973G>A MANE Select	ENSP00000295550.4:p.Met2991Ile
ENST00000295550.8:c.8973G>A	ENSP00000295550.4:p.Met2991Ile
ENST00000347401.7:c.7149G>A	ENSP00000315609.4:p.Met2383Ile
ENST00000353578.8:c.8355G>A	ENSP00000315873.4:p.Met2785Ile
ENST00000409809.5:c.8355G>A	ENSP00000386844.1:p.Met2785Ile
ENST00000472056.5:c.7152G>A	ENSP00000418285.1:p.Met2384Ile
ENST00000491769.1:n.5415G>A
NM_004369.3:c.8973G>A , LRG_473t1:c.8973G>A	NP_004360.2:p.Met2991Ile
NM_057166.4:c.7152G>A	NP_476507.3:p.Met2384Ile
NM_057167.3:c.8355G>A	NP_476508.2:p.Met2785Ile
XM_005246065.1:c.8373G>A	XP_005246122.1:p.Met2791Ile
XM_005246066.1:c.7752G>A	XP_005246123.1:p.Met2584Ile
XM_006712253.1:c.8472G>A	XP_006712316.1:p.Met2824Ile
XM_011510574.1:c.8970G>A	XP_011508876.1:p.Met2990Ile
XM_011510575.1:c.6567G>A	XP_011508877.1:p.Met2189Ile
XM_017003304.1:c.6567G>A	XP_016858793.1:p.Met2189Ile
XM_024452684.1:c.7752G>A	XP_024308452.1:p.Met2584Ile
NM_004369.4:c.8973G>A MANE Select	NP_004360.2:p.Met2991Ile
NM_057166.5:c.7152G>A	NP_476507.3:p.Met2384Ile
NM_057167.4:c.8355G>A	NP_476508.2:p.Met2785Ile