Canonical Allele Identifier: CA2580094677
Gene: AXIN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1782781
ClinVar RCV Id: RCV002410814

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.65536533_65536534delinsAA , CM000679.2:g.65536533_65536534delinsAA GRCh38
NC_000017.10:g.63532651_63532652delinsAA , CM000679.1:g.63532651_63532652delinsAA GRCh37
NC_000017.9:g.60963113_60963114delinsAA NCBI36
NG_012142.1:g.30089_30090delinsTT , LRG_296:g.30089_30090delinsTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000307078.10:c.1927_1928delinsTT MANE Select ENSP00000302625.5:p.Ala643Phe
ENST00000307078.9:c.1927_1928delinsTT ENSP00000302625.5:p.Ala643Phe
ENST00000375702.5:c.1732_1733delinsTT ENSP00000364854.5:p.Ala578Phe
ENST00000578251.1:n.149_150delinsTT
ENST00000611991.1:c.397-7834_397-7833delinsTT ENSP00000481191.1:n.397-7834_397-7833delinsTT
ENST00000618960.4:c.1732_1733delinsTT ENSP00000478916.1:p.Ala578Phe
NM_004655.3:c.1927_1928delinsTT , LRG_296t1:c.1927_1928delinsTT NP_004646.3:p.Ala643Phe
XM_011525319.1:c.1927_1928delinsTT XP_011523621.1:p.Ala643Phe
XM_011525320.1:c.1927_1928delinsTT XP_011523622.1:p.Ala643Phe
XM_011525321.1:c.1927_1928delinsTT XP_011523623.1:p.Ala643Phe
XM_011525322.1:c.1732_1733delinsTT XP_011523624.1:p.Ala578Phe
NM_001363813.1:c.1732_1733delinsTT NP_001350742.1:p.Ala578Phe
NM_004655.4:c.1927_1928delinsTT MANE Select NP_004646.3:p.Ala643Phe
XM_011525319.2:c.1927_1928delinsTT XP_011523621.1:p.Ala643Phe
XM_011525321.2:c.1927_1928delinsTT XP_011523623.1:p.Ala643Phe
XM_017025192.1:c.1927_1928delinsTT XP_016880681.1:p.Ala643Phe
XM_017025193.1:c.1732_1733delinsTT XP_016880682.1:p.Ala578Phe