Canonical Allele Identifier: CA400676286

Gene: AXIN2

Linked Data

• ClinVar Variation Id: 1484372
• ClinVar RCV Id: RCV002005745
• dbSNP Id: rs2144443801
• MyVariant Identifiers: chr17:g.63532637A>G (hg19) ; chr17:g.65536519A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.65536519A>G , CM000679.2:g.65536519A>G	GRCh38
NC_000017.10:g.63532637A>G , CM000679.1:g.63532637A>G	GRCh37
NC_000017.9:g.60963099A>G	NCBI36
NG_012142.1:g.30104T>C , LRG_296:g.30104T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307078.10:c.1942T>C MANE Select	ENSP00000302625.5:p.Ser648Pro
ENST00000307078.9:c.1942T>C	ENSP00000302625.5:p.Ser648Pro
ENST00000375702.5:c.1747T>C	ENSP00000364854.5:p.Ser583Pro
ENST00000578251.1:n.164T>C
ENST00000611991.1:c.397-7819T>C	ENSP00000481191.1:n.397-7819T>C
ENST00000618960.4:c.1747T>C	ENSP00000478916.1:p.Ser583Pro
NM_004655.3:c.1942T>C , LRG_296t1:c.1942T>C	NP_004646.3:p.Ser648Pro
XM_011525319.1:c.1942T>C	XP_011523621.1:p.Ser648Pro
XM_011525320.1:c.1942T>C	XP_011523622.1:p.Ser648Pro
XM_011525321.1:c.1942T>C	XP_011523623.1:p.Ser648Pro
XM_011525322.1:c.1747T>C	XP_011523624.1:p.Ser583Pro
NM_001363813.1:c.1747T>C	NP_001350742.1:p.Ser583Pro
NM_004655.4:c.1942T>C MANE Select	NP_004646.3:p.Ser648Pro
XM_011525319.2:c.1942T>C	XP_011523621.1:p.Ser648Pro
XM_011525321.2:c.1942T>C	XP_011523623.1:p.Ser648Pro
XM_017025192.1:c.1942T>C	XP_016880681.1:p.Ser648Pro
XM_017025193.1:c.1747T>C	XP_016880682.1:p.Ser583Pro