Canonical Allele Identifier: CA250538

Gene: AXIN2

Linked Data

• ClinVar Variation Id: 5880
• ClinVar RCV Id: RCV000006238 ; RCV000463233
• dbSNP Id: rs267606674
• gnomAD v2: 17-63532584-GC-G
• COSMIC: COSM1385326
• MyVariant Identifiers: chr17:g.63532585del (hg19) ; chr17:g.65536467del (hg38)
• PubMed: PMID:11017067

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.65536473del , CM000679.2:g.65536473del	GRCh38
NC_000017.10:g.63532591del , CM000679.1:g.63532591del	GRCh37
NC_000017.9:g.60963053del	NCBI36
NG_012142.1:g.30156del , LRG_296:g.30156del

Transcript Alleles

HGVS	Amino-acid change
ENST00000307078.10:c.1994del MANE Select	ENSP00000302625.5:p.Gly665AlafsTer24
ENST00000307078.9:c.1994del	ENSP00000302625.5:p.Gly665AlafsTer24
ENST00000375702.5:c.1799del	ENSP00000364854.5:p.Gly600AlafsTer24
ENST00000578251.1:n.216del
ENST00000611991.1:c.397-7767del	ENSP00000481191.1:n.397-7767del
ENST00000618960.4:c.1799del	ENSP00000478916.1:p.Gly600AlafsTer24
NM_004655.3:c.1994del , LRG_296t1:c.1994del	NP_004646.3:p.Gly665AlafsTer24
XM_011525319.1:c.1994del	XP_011523621.1:p.Gly665AlafsTer24
XM_011525320.1:c.1994del	XP_011523622.1:p.Gly665AlafsTer24
XM_011525321.1:c.1994del	XP_011523623.1:p.Gly665AlafsTer24
XM_011525322.1:c.1799del	XP_011523624.1:p.Gly600AlafsTer24
NM_001363813.1:c.1799del	NP_001350742.1:p.Gly600AlafsTer24
NM_004655.4:c.1994del MANE Select	NP_004646.3:p.Gly665AlafsTer24
XM_011525319.2:c.1994del	XP_011523621.1:p.Gly665AlafsTer24
XM_011525321.2:c.1994del	XP_011523623.1:p.Gly665AlafsTer24
XM_017025192.1:c.1994del	XP_016880681.1:p.Gly665AlafsTer24
XM_017025193.1:c.1799del	XP_016880682.1:p.Gly600AlafsTer24