Canonical Allele Identifier: CA764894

Gene: COL8A2

Linked Data

• ClinVar Variation Id: 2990438
• ClinVar RCV Id: RCV003845133
• dbSNP Id: rs774419881
• ExAC: 1:36563580 C / T
• gnomAD v2: 1-36563580-C-T
• gnomAD v3: 1-36097979-C-T
• gnomAD v4: 1-36097979-C-T
• MyVariant Identifiers: chr1:g.36563580C>T (hg19) ; chr1:g.36097979C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.36097979C>T , CM000663.2:g.36097979C>T	GRCh38
NC_000001.10:g.36563580C>T , CM000663.1:g.36563580C>T	GRCh37
NC_000001.9:g.36336167C>T	NCBI36
NG_016245.2:g.32106G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397799.2:c.1702G>A MANE Select	ENSP00000380901.1:p.Glu568Lys
ENST00000303143.9:c.1702G>A	ENSP00000305913.4:p.Glu568Lys
ENST00000397799.1:c.1702G>A	ENSP00000380901.1:p.Glu568Lys
ENST00000481785.1:c.1507G>A	ENSP00000436433.1:p.Glu503Lys
ENST00000615990.1:c.874G>A	ENSP00000484406.1:p.Glu292Lys
NM_001294347.1:c.1507G>A	NP_001281276.1:p.Glu503Lys
NM_005202.3:c.1702G>A	NP_005193.1:p.Glu568Lys
XM_005270477.2:c.1933G>A	XP_005270534.1:p.Glu645Lys
XM_005270477.3:c.1933G>A	XP_005270534.1:p.Glu645Lys
NM_005202.4:c.1702G>A MANE Select	NP_005193.1:p.Glu568Lys
NM_001294347.2:c.1507G>A	NP_001281276.1:p.Glu503Lys