Canonical Allele Identifier: CA288098

Gene: AXIN2

Linked Data

• ClinVar Variation Id: 127941
• ClinVar RCV Id: RCV002490780 ; RCV003935106
• dbSNP Id: rs138287857
• ExAC: 17:63532528 G / A
• gnomAD v2: 17-63532528-G-A
• gnomAD v3: 17-65536410-G-A
• gnomAD v4: 17-65536410-G-A
• COSMIC: COSM3665212
• MyVariant Identifiers: chr17:g.63532528G>A (hg19) ; chr17:g.65536410G>A (hg38)
• PubMed: PMID:21626677 ; PMID:25260786

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.65536410G>A , CM000679.2:g.65536410G>A	GRCh38
NC_000017.10:g.63532528G>A , CM000679.1:g.63532528G>A	GRCh37
NC_000017.9:g.60962990G>A	NCBI36
NG_012142.1:g.30213C>T , LRG_296:g.30213C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000307078.10:c.2051C>T MANE Select	ENSP00000302625.5:p.Ala684Val
ENST00000307078.9:c.2051C>T	ENSP00000302625.5:p.Ala684Val
ENST00000375702.5:c.1856C>T	ENSP00000364854.5:p.Ala619Val
ENST00000578251.1:n.273C>T
ENST00000611991.1:c.397-7710C>T	ENSP00000481191.1:n.397-7710C>T
ENST00000618960.4:c.1856C>T	ENSP00000478916.1:p.Ala619Val
NM_004655.3:c.2051C>T , LRG_296t1:c.2051C>T	NP_004646.3:p.Ala684Val
XM_011525319.1:c.2051C>T	XP_011523621.1:p.Ala684Val
XM_011525320.1:c.2051C>T	XP_011523622.1:p.Ala684Val
XM_011525321.1:c.2051C>T	XP_011523623.1:p.Ala684Val
XM_011525322.1:c.1856C>T	XP_011523624.1:p.Ala619Val
NM_001363813.1:c.1856C>T	NP_001350742.1:p.Ala619Val
NM_004655.4:c.2051C>T MANE Select	NP_004646.3:p.Ala684Val
XM_011525319.2:c.2051C>T	XP_011523621.1:p.Ala684Val
XM_011525321.2:c.2051C>T	XP_011523623.1:p.Ala684Val
XM_017025192.1:c.2051C>T	XP_016880681.1:p.Ala684Val
XM_017025193.1:c.1856C>T	XP_016880682.1:p.Ala619Val