Canonical Allele Identifier: CA351192004

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238245140G>A (hg19) ; chr2:g.237336497G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336497G>A , CM000664.2:g.237336497G>A	GRCh38
NC_000002.11:g.238245140G>A , CM000664.1:g.238245140G>A	GRCh37
NC_000002.10:g.237909879G>A	NCBI36
NG_008676.1:g.82711C>T , LRG_473:g.82711C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1248C>T
ENST00000353578.9:c.7985C>T	ENSP00000315873.4:p.Ser2662Phe
ENST00000682957.1:c.730C>T
ENST00000684508.1:n.870C>T
ENST00000295550.9:c.8603C>T MANE Select	ENSP00000295550.4:p.Ser2868Phe
ENST00000295550.8:c.8603C>T	ENSP00000295550.4:p.Ser2868Phe
ENST00000347401.7:c.6779C>T	ENSP00000315609.4:p.Ser2260Phe
ENST00000353578.8:c.7985C>T	ENSP00000315873.4:p.Ser2662Phe
ENST00000409809.5:c.7985C>T	ENSP00000386844.1:p.Ser2662Phe
ENST00000472056.5:c.6782C>T	ENSP00000418285.1:p.Ser2261Phe
ENST00000491769.1:n.5045C>T
NM_004369.3:c.8603C>T , LRG_473t1:c.8603C>T	NP_004360.2:p.Ser2868Phe
NM_057166.4:c.6782C>T	NP_476507.3:p.Ser2261Phe
NM_057167.3:c.7985C>T	NP_476508.2:p.Ser2662Phe
XM_005246065.1:c.8003C>T	XP_005246122.1:p.Ser2668Phe
XM_005246066.1:c.7382C>T	XP_005246123.1:p.Ser2461Phe
XM_006712253.1:c.8102C>T	XP_006712316.1:p.Ser2701Phe
XM_011510574.1:c.8600C>T	XP_011508876.1:p.Ser2867Phe
XM_011510575.1:c.6197C>T	XP_011508877.1:p.Ser2066Phe
XM_017003304.1:c.6197C>T	XP_016858793.1:p.Ser2066Phe
XM_024452684.1:c.7382C>T	XP_024308452.1:p.Ser2461Phe
NM_004369.4:c.8603C>T MANE Select	NP_004360.2:p.Ser2868Phe
NM_057166.5:c.6782C>T	NP_476507.3:p.Ser2261Phe
NM_057167.4:c.7985C>T	NP_476508.2:p.Ser2662Phe