Canonical Allele Identifier: CA351192027

Gene: COL6A3

Linked Data

• gnomAD v4: 2-237336507-T-A
• MyVariant Identifiers: chr2:g.238245150T>A (hg19) ; chr2:g.237336507T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336507T>A , CM000664.2:g.237336507T>A	GRCh38
NC_000002.11:g.238245150T>A , CM000664.1:g.238245150T>A	GRCh37
NC_000002.10:g.237909889T>A	NCBI36
NG_008676.1:g.82701A>T , LRG_473:g.82701A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1238A>T
ENST00000353578.9:c.7975A>T	ENSP00000315873.4:p.Ser2659Cys
ENST00000682957.1:c.720A>T
ENST00000684508.1:n.860A>T
ENST00000295550.9:c.8593A>T MANE Select	ENSP00000295550.4:p.Ser2865Cys
ENST00000295550.8:c.8593A>T	ENSP00000295550.4:p.Ser2865Cys
ENST00000347401.7:c.6769A>T	ENSP00000315609.4:p.Ser2257Cys
ENST00000353578.8:c.7975A>T	ENSP00000315873.4:p.Ser2659Cys
ENST00000409809.5:c.7975A>T	ENSP00000386844.1:p.Ser2659Cys
ENST00000472056.5:c.6772A>T	ENSP00000418285.1:p.Ser2258Cys
ENST00000491769.1:n.5035A>T
NM_004369.3:c.8593A>T , LRG_473t1:c.8593A>T	NP_004360.2:p.Ser2865Cys
NM_057166.4:c.6772A>T	NP_476507.3:p.Ser2258Cys
NM_057167.3:c.7975A>T	NP_476508.2:p.Ser2659Cys
XM_005246065.1:c.7993A>T	XP_005246122.1:p.Ser2665Cys
XM_005246066.1:c.7372A>T	XP_005246123.1:p.Ser2458Cys
XM_006712253.1:c.8092A>T	XP_006712316.1:p.Ser2698Cys
XM_011510574.1:c.8590A>T	XP_011508876.1:p.Ser2864Cys
XM_011510575.1:c.6187A>T	XP_011508877.1:p.Ser2063Cys
XM_017003304.1:c.6187A>T	XP_016858793.1:p.Ser2063Cys
XM_024452684.1:c.7372A>T	XP_024308452.1:p.Ser2458Cys
NM_004369.4:c.8593A>T MANE Select	NP_004360.2:p.Ser2865Cys
NM_057166.5:c.6772A>T	NP_476507.3:p.Ser2258Cys
NM_057167.4:c.7975A>T	NP_476508.2:p.Ser2659Cys