Canonical Allele Identifier: CA288092

Gene: AXIN2

Linked Data

• ClinVar Variation Id: 127939
• ClinVar RCV Id: RCV000115871 ; RCV000203710 ; RCV000857875 ; RCV001013914 ; RCV004529934
• dbSNP Id: rs142476324
• ExAC: 17:63532594 A / G
• gnomAD v2: 17-63532594-A-G
• gnomAD v3: 17-65536476-A-G
• gnomAD v4: 17-65536476-A-G
• MyVariant Identifiers: chr17:g.63532594A>G (hg19) ; chr17:g.65536476A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.65536476A>G , CM000679.2:g.65536476A>G	GRCh38
NC_000017.10:g.63532594A>G , CM000679.1:g.63532594A>G	GRCh37
NC_000017.9:g.60963056A>G	NCBI36
NG_012142.1:g.30147T>C , LRG_296:g.30147T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307078.10:c.1985T>C MANE Select	ENSP00000302625.5:p.Leu662Pro
ENST00000307078.9:c.1985T>C	ENSP00000302625.5:p.Leu662Pro
ENST00000375702.5:c.1790T>C	ENSP00000364854.5:p.Leu597Pro
ENST00000578251.1:n.207T>C
ENST00000611991.1:c.397-7776T>C	ENSP00000481191.1:n.397-7776T>C
ENST00000618960.4:c.1790T>C	ENSP00000478916.1:p.Leu597Pro
NM_004655.3:c.1985T>C , LRG_296t1:c.1985T>C	NP_004646.3:p.Leu662Pro
XM_011525319.1:c.1985T>C	XP_011523621.1:p.Leu662Pro
XM_011525320.1:c.1985T>C	XP_011523622.1:p.Leu662Pro
XM_011525321.1:c.1985T>C	XP_011523623.1:p.Leu662Pro
XM_011525322.1:c.1790T>C	XP_011523624.1:p.Leu597Pro
NM_001363813.1:c.1790T>C	NP_001350742.1:p.Leu597Pro
NM_004655.4:c.1985T>C MANE Select	NP_004646.3:p.Leu662Pro
XM_011525319.2:c.1985T>C	XP_011523621.1:p.Leu662Pro
XM_011525321.2:c.1985T>C	XP_011523623.1:p.Leu662Pro
XM_017025192.1:c.1985T>C	XP_016880681.1:p.Leu662Pro
XM_017025193.1:c.1790T>C	XP_016880682.1:p.Leu597Pro