Canonical Allele Identifier: CA16620567
Community Standard Title: NM_004655.4(AXIN2):c.1613G>A (p.Arg538Gln)
Gene: AXIN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.65537423C>T , CM000679.2:g.65537423C>T GRCh38
NC_000017.10:g.63533541C>T , CM000679.1:g.63533541C>T GRCh37
NC_000017.9:g.60964003C>T NCBI36
NG_012142.1:g.29200G>A , LRG_296:g.29200G>A

Transcript Alleles

HGVS Amino-acid Change
NM_004655.4:c.1613G>A MANE Select NP_004646.3:p.Arg538Gln
ENST00000307078.10:c.1613G>A MANE Select ENSP00000302625.5:p.Arg538Gln
NM_001363813.1:c.1613G>A NP_001350742.1:p.Arg538Gln
NM_004655.3:c.1613G>A , LRG_296t1:c.1613G>A NP_004646.3:p.Arg538Gln
ENST00000307078.9:c.1613G>A ENSP00000302625.5:p.Arg538Gln
ENST00000375702.5:c.1613G>A ENSP00000364854.5:p.Arg538Gln
ENST00000611991.1:c.397-8723G>A ENSP00000481191.1:n.397-8723G>A
ENST00000618960.4:c.1613G>A ENSP00000478916.1:p.Arg538Gln
XM_011525319.1:c.1613G>A XP_011523621.1:p.Arg538Gln
XM_011525319.2:c.1613G>A XP_011523621.1:p.Arg538Gln
XM_011525320.1:c.1613G>A XP_011523622.1:p.Arg538Gln
XM_011525321.1:c.1613G>A XP_011523623.1:p.Arg538Gln
XM_011525321.2:c.1613G>A XP_011523623.1:p.Arg538Gln
XM_011525322.1:c.1613G>A XP_011523624.1:p.Arg538Gln
XM_017025192.1:c.1613G>A XP_016880681.1:p.Arg538Gln
XM_017025193.1:c.1613G>A XP_016880682.1:p.Arg538Gln