Allele Registry

Canonical Allele Identifier: CA250301

Gene: COL8A2 HGNC NCBI

Linked Data - Predicted Effect Evidence

MyVariant.info:

GRCh38 chr1:g.36098317_36098318delinsAC

GRCh37 chr1:g.36563918_36563919delinsAC

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000154184

ClinVar Variation:

167868

dbSNP:

727504229

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.36098317_36098318delinsAC , CM000663.2:g.36098317_36098318delinsAC	GRCh38
NC_000001.10:g.36563918_36563919delinsAC , CM000663.1:g.36563918_36563919delinsAC	GRCh37
NC_000001.9:g.36336505_36336506delinsAC	NCBI36
NG_016245.2:g.31767_31768delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397799.2:c.1363_1364delinsGT MANE Select	ENSP00000380901.1:p.Gln455Val
ENST00000303143.9:c.1363_1364delinsGT	ENSP00000305913.4:p.Gln455Val
ENST00000397799.1:c.1363_1364delinsGT	ENSP00000380901.1:p.Gln455Val
ENST00000481785.1:c.1168_1169delinsGT	ENSP00000436433.1:p.Gln390Val
ENST00000615990.1:c.773-238_773-237delinsGT	ENSP00000484406.1:n.773-238_773-237delinsGT
NM_001294347.1:c.1168_1169delinsGT	NP_001281276.1:p.Gln390Val
NM_005202.3:c.1363_1364delinsGT	NP_005193.1:p.Gln455Val
XM_005270477.2:c.1594_1595delinsGT	XP_005270534.1:p.Gln532Val
XM_005270477.3:c.1594_1595delinsGT	XP_005270534.1:p.Gln532Val
NM_005202.4:c.1363_1364delinsGT MANE Select	NP_005193.1:p.Gln455Val
NM_001294347.2:c.1168_1169delinsGT	NP_001281276.1:p.Gln390Val

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