Canonical Allele Identifier: CA351216647

Gene: COL6A3

Linked Data

• ClinVar Variation Id: 1427710
• ClinVar RCV Id: RCV001933845
• dbSNP Id: rs2106342283
• MyVariant Identifiers: chr2:g.238268778T>A (hg19) ; chr2:g.237360135T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237360135T>A , CM000664.2:g.237360135T>A	GRCh38
NC_000002.11:g.238268778T>A , CM000664.1:g.238268778T>A	GRCh37
NC_000002.10:g.237933517T>A	NCBI36
NG_008676.1:g.59073A>T , LRG_473:g.59073A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000353578.9:c.5617A>T	ENSP00000315873.4:p.Asn1873Tyr
ENST00000295550.9:c.6235A>T MANE Select	ENSP00000295550.4:p.Asn2079Tyr
ENST00000295550.8:c.6235A>T	ENSP00000295550.4:p.Asn2079Tyr
ENST00000347401.7:c.4414A>T	ENSP00000315609.4:p.Asn1472Tyr
ENST00000353578.8:c.5617A>T	ENSP00000315873.4:p.Asn1873Tyr
ENST00000409809.5:c.5617A>T	ENSP00000386844.1:p.Asn1873Tyr
ENST00000472056.5:c.4414A>T	ENSP00000418285.1:p.Asn1472Tyr
NM_004369.3:c.6235A>T , LRG_473t1:c.6235A>T	NP_004360.2:p.Asn2079Tyr
NM_057166.4:c.4414A>T	NP_476507.3:p.Asn1472Tyr
NM_057167.3:c.5617A>T	NP_476508.2:p.Asn1873Tyr
XM_005246065.1:c.5635A>T	XP_005246122.1:p.Asn1879Tyr
XM_005246066.1:c.5014A>T	XP_005246123.1:p.Asn1672Tyr
XM_006712253.1:c.5734A>T	XP_006712316.1:p.Asn1912Tyr
XM_011510574.1:c.6232A>T	XP_011508876.1:p.Asn2078Tyr
XM_011510575.1:c.3829A>T	XP_011508877.1:p.Asn1277Tyr
XM_017003304.1:c.3829A>T	XP_016858793.1:p.Asn1277Tyr
XM_024452684.1:c.5014A>T	XP_024308452.1:p.Asn1672Tyr
NM_004369.4:c.6235A>T MANE Select	NP_004360.2:p.Asn2079Tyr
NM_057166.5:c.4414A>T	NP_476507.3:p.Asn1472Tyr
NM_057167.4:c.5617A>T	NP_476508.2:p.Asn1873Tyr