Canonical Allele Identifier: CA16607780

Gene: AXIN2

Linked Data

• ClinVar Variation Id: 379711
• ClinVar RCV Id: RCV000421115 ; RCV001463496 ; RCV002418260
• dbSNP Id: rs1057520705
• gnomAD v4: 17-65536475-C-T
• MyVariant Identifiers: chr17:g.63532593C>T (hg19) ; chr17:g.65536475C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.65536475C>T , CM000679.2:g.65536475C>T	GRCh38
NC_000017.10:g.63532593C>T , CM000679.1:g.63532593C>T	GRCh37
NC_000017.9:g.60963055C>T	NCBI36
NG_012142.1:g.30148G>A , LRG_296:g.30148G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307078.10:c.1986G>A MANE Select	ENSP00000302625.5:p.Leu662=
ENST00000307078.9:c.1986G>A	ENSP00000302625.5:p.Leu662=
ENST00000375702.5:c.1791G>A	ENSP00000364854.5:p.Leu597=
ENST00000578251.1:n.208G>A
ENST00000611991.1:c.397-7775G>A	ENSP00000481191.1:n.397-7775G>A
ENST00000618960.4:c.1791G>A	ENSP00000478916.1:p.Leu597=
NM_004655.3:c.1986G>A , LRG_296t1:c.1986G>A	NP_004646.3:p.Leu662=
XM_011525319.1:c.1986G>A	XP_011523621.1:p.Leu662=
XM_011525320.1:c.1986G>A	XP_011523622.1:p.Leu662=
XM_011525321.1:c.1986G>A	XP_011523623.1:p.Leu662=
XM_011525322.1:c.1791G>A	XP_011523624.1:p.Leu597=
NM_001363813.1:c.1791G>A	NP_001350742.1:p.Leu597=
NM_004655.4:c.1986G>A MANE Select	NP_004646.3:p.Leu662=
XM_011525319.2:c.1986G>A	XP_011523621.1:p.Leu662=
XM_011525321.2:c.1986G>A	XP_011523623.1:p.Leu662=
XM_017025192.1:c.1986G>A	XP_016880681.1:p.Leu662=
XM_017025193.1:c.1791G>A	XP_016880682.1:p.Leu597=