Canonical Allele Identifier: CA14490126

Gene: AXIN2

Linked Data

• ClinVar Variation Id: 1183683
• ClinVar RCV Id: RCV001541580 ; RCV001553953
• dbSNP Id: rs28684769
• gnomAD v2: 17-63532767-C-G
• gnomAD v3: 17-65536649-C-G
• gnomAD v4: 17-65536649-C-G
• MyVariant Identifiers: chr17:g.63532767C>G (hg19) ; chr17:g.63532767_63532769delinsGAG (hg19) ; chr17:g.65536649C>G (hg38) ; chr17:g.65536649_65536651delinsGAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.65536649C>G , CM000679.2:g.65536649C>G	GRCh38
NC_000017.10:g.63532767C>G , CM000679.1:g.63532767C>G	GRCh37
NC_000017.9:g.60963229C>G	NCBI36
NG_012142.1:g.29974G>C , LRG_296:g.29974G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307078.10:c.1908-96G>C MANE Select	ENSP00000302625.5:n.1908-96G>C
ENST00000307078.9:c.1908-96G>C	ENSP00000302625.5:n.1908-96G>C
ENST00000375702.5:c.1713-96G>C	ENSP00000364854.5:n.1713-96G>C
ENST00000578251.1:n.34G>C
ENST00000611991.1:c.397-7949G>C	ENSP00000481191.1:n.397-7949G>C
ENST00000618960.4:c.1713-96G>C	ENSP00000478916.1:n.1713-96G>C
NM_004655.3:c.1908-96G>C , LRG_296t1:c.1908-96G>C	NP_004646.3:n.1908-96G>C
XM_011525319.1:c.1908-96G>C	XP_011523621.1:n.1908-96G>C
XM_011525320.1:c.1908-96G>C	XP_011523622.1:n.1908-96G>C
XM_011525321.1:c.1908-96G>C	XP_011523623.1:n.1908-96G>C
XM_011525322.1:c.1713-96G>C	XP_011523624.1:n.1713-96G>C
NM_001363813.1:c.1713-96G>C	NP_001350742.1:n.1713-96G>C
NM_004655.4:c.1908-96G>C MANE Select	NP_004646.3:n.1908-96G>C
XM_011525319.2:c.1908-96G>C	XP_011523621.1:n.1908-96G>C
XM_011525321.2:c.1908-96G>C	XP_011523623.1:n.1908-96G>C
XM_017025192.1:c.1908-96G>C	XP_016880681.1:n.1908-96G>C
XM_017025193.1:c.1713-96G>C	XP_016880682.1:n.1713-96G>C