Canonical Allele Identifier: CA351192024

Gene: COL6A3

Linked Data

• dbSNP Id: rs1278055115
• gnomAD v2: 2-238245149-C-T
• gnomAD v4: 2-237336506-C-T
• MyVariant Identifiers: chr2:g.238245149C>T (hg19) ; chr2:g.237336506C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336506C>T , CM000664.2:g.237336506C>T	GRCh38
NC_000002.11:g.238245149C>T , CM000664.1:g.238245149C>T	GRCh37
NC_000002.10:g.237909888C>T	NCBI36
NG_008676.1:g.82702G>A , LRG_473:g.82702G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1239G>A
ENST00000353578.9:c.7976G>A	ENSP00000315873.4:p.Ser2659Asn
ENST00000682957.1:c.721G>A
ENST00000684508.1:n.861G>A
ENST00000295550.9:c.8594G>A MANE Select	ENSP00000295550.4:p.Ser2865Asn
ENST00000295550.8:c.8594G>A	ENSP00000295550.4:p.Ser2865Asn
ENST00000347401.7:c.6770G>A	ENSP00000315609.4:p.Ser2257Asn
ENST00000353578.8:c.7976G>A	ENSP00000315873.4:p.Ser2659Asn
ENST00000409809.5:c.7976G>A	ENSP00000386844.1:p.Ser2659Asn
ENST00000472056.5:c.6773G>A	ENSP00000418285.1:p.Ser2258Asn
ENST00000491769.1:n.5036G>A
NM_004369.3:c.8594G>A , LRG_473t1:c.8594G>A	NP_004360.2:p.Ser2865Asn
NM_057166.4:c.6773G>A	NP_476507.3:p.Ser2258Asn
NM_057167.3:c.7976G>A	NP_476508.2:p.Ser2659Asn
XM_005246065.1:c.7994G>A	XP_005246122.1:p.Ser2665Asn
XM_005246066.1:c.7373G>A	XP_005246123.1:p.Ser2458Asn
XM_006712253.1:c.8093G>A	XP_006712316.1:p.Ser2698Asn
XM_011510574.1:c.8591G>A	XP_011508876.1:p.Ser2864Asn
XM_011510575.1:c.6188G>A	XP_011508877.1:p.Ser2063Asn
XM_017003304.1:c.6188G>A	XP_016858793.1:p.Ser2063Asn
XM_024452684.1:c.7373G>A	XP_024308452.1:p.Ser2458Asn
NM_004369.4:c.8594G>A MANE Select	NP_004360.2:p.Ser2865Asn
NM_057166.5:c.6773G>A	NP_476507.3:p.Ser2258Asn
NM_057167.4:c.7976G>A	NP_476508.2:p.Ser2659Asn