Canonical Allele Identifier: CA400676350

Gene: AXIN2

Linked Data

• ClinVar Variation Id: 664235
• ClinVar RCV Id: RCV000822291 ; RCV002408989
• dbSNP Id: rs1598097196
• MyVariant Identifiers: chr17:g.63532667G>A (hg19) ; chr17:g.65536549G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.65536549G>A , CM000679.2:g.65536549G>A	GRCh38
NC_000017.10:g.63532667G>A , CM000679.1:g.63532667G>A	GRCh37
NC_000017.9:g.60963129G>A	NCBI36
NG_012142.1:g.30074C>T , LRG_296:g.30074C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307078.10:c.1912C>T MANE Select	ENSP00000302625.5:p.Gln638Ter
ENST00000307078.9:c.1912C>T	ENSP00000302625.5:p.Gln638Ter
ENST00000375702.5:c.1717C>T	ENSP00000364854.5:p.Gln573Ter
ENST00000578251.1:n.134C>T
ENST00000611991.1:c.397-7849C>T	ENSP00000481191.1:n.397-7849C>T
ENST00000618960.4:c.1717C>T	ENSP00000478916.1:p.Gln573Ter
NM_004655.3:c.1912C>T , LRG_296t1:c.1912C>T	NP_004646.3:p.Gln638Ter
XM_011525319.1:c.1912C>T	XP_011523621.1:p.Gln638Ter
XM_011525320.1:c.1912C>T	XP_011523622.1:p.Gln638Ter
XM_011525321.1:c.1912C>T	XP_011523623.1:p.Gln638Ter
XM_011525322.1:c.1717C>T	XP_011523624.1:p.Gln573Ter
NM_001363813.1:c.1717C>T	NP_001350742.1:p.Gln573Ter
NM_004655.4:c.1912C>T MANE Select	NP_004646.3:p.Gln638Ter
XM_011525319.2:c.1912C>T	XP_011523621.1:p.Gln638Ter
XM_011525321.2:c.1912C>T	XP_011523623.1:p.Gln638Ter
XM_017025192.1:c.1912C>T	XP_016880681.1:p.Gln638Ter
XM_017025193.1:c.1717C>T	XP_016880682.1:p.Gln573Ter