Canonical Allele Identifier: CA627152057

Gene: AXIN2

Linked Data

• ClinVar Variation Id: 2017554
• ClinVar RCV Id: RCV002835255
• dbSNP Id: rs1429190642
• gnomAD v2: 17-63532685-G-A
• gnomAD v3: 17-65536567-G-A
• gnomAD v4: 17-65536567-G-A
• MyVariant Identifiers: chr17:g.63532685G>A (hg19) ; chr17:g.65536567G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.65536567G>A , CM000679.2:g.65536567G>A	GRCh38
NC_000017.10:g.63532685G>A , CM000679.1:g.63532685G>A	GRCh37
NC_000017.9:g.60963147G>A	NCBI36
NG_012142.1:g.30056C>T , LRG_296:g.30056C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307078.10:c.1908-14C>T MANE Select	ENSP00000302625.5:n.1908-14C>T
ENST00000307078.9:c.1908-14C>T	ENSP00000302625.5:n.1908-14C>T
ENST00000375702.5:c.1713-14C>T	ENSP00000364854.5:n.1713-14C>T
ENST00000578251.1:n.116C>T
ENST00000611991.1:c.397-7867C>T	ENSP00000481191.1:n.397-7867C>T
ENST00000618960.4:c.1713-14C>T	ENSP00000478916.1:n.1713-14C>T
NM_004655.3:c.1908-14C>T , LRG_296t1:c.1908-14C>T	NP_004646.3:n.1908-14C>T
XM_011525319.1:c.1908-14C>T	XP_011523621.1:n.1908-14C>T
XM_011525320.1:c.1908-14C>T	XP_011523622.1:n.1908-14C>T
XM_011525321.1:c.1908-14C>T	XP_011523623.1:n.1908-14C>T
XM_011525322.1:c.1713-14C>T	XP_011523624.1:n.1713-14C>T
NM_001363813.1:c.1713-14C>T	NP_001350742.1:n.1713-14C>T
NM_004655.4:c.1908-14C>T MANE Select	NP_004646.3:n.1908-14C>T
XM_011525319.2:c.1908-14C>T	XP_011523621.1:n.1908-14C>T
XM_011525321.2:c.1908-14C>T	XP_011523623.1:n.1908-14C>T
XM_017025192.1:c.1908-14C>T	XP_016880681.1:n.1908-14C>T
XM_017025193.1:c.1713-14C>T	XP_016880682.1:n.1713-14C>T