Canonical Allele Identifier: CA8718371

Gene: AXIN2

Linked Data

• ClinVar Variation Id: 408795
• ClinVar RCV Id: RCV000467556 ; RCV002257718 ; RCV003476070
• dbSNP Id: rs781309325
• ExAC: 17:63531759 C / T
• gnomAD v2: 17-63531759-C-T
• gnomAD v3: 17-65535641-C-T
• gnomAD v4: 17-65535641-C-T
• MyVariant Identifiers: chr17:g.63531759C>T (hg19) ; chr17:g.65535641C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.65535641C>T , CM000679.2:g.65535641C>T	GRCh38
NC_000017.10:g.63531759C>T , CM000679.1:g.63531759C>T	GRCh37
NC_000017.9:g.60962221C>T	NCBI36
NG_012142.1:g.30982G>A , LRG_296:g.30982G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307078.10:c.2222G>A MANE Select	ENSP00000302625.5:p.Ser741Asn
ENST00000307078.9:c.2222G>A	ENSP00000302625.5:p.Ser741Asn
ENST00000375702.5:c.2027G>A	ENSP00000364854.5:p.Ser676Asn
ENST00000578251.1:n.444G>A
ENST00000611991.1:c.397-6941G>A	ENSP00000481191.1:n.397-6941G>A
ENST00000618960.4:c.2027G>A	ENSP00000478916.1:p.Ser676Asn
NM_004655.3:c.2222G>A , LRG_296t1:c.2222G>A	NP_004646.3:p.Ser741Asn
XM_011525319.1:c.2222G>A	XP_011523621.1:p.Ser741Asn
XM_011525320.1:c.2222G>A	XP_011523622.1:p.Ser741Asn
XM_011525321.1:c.2222G>A	XP_011523623.1:p.Ser741Asn
XM_011525322.1:c.2027G>A	XP_011523624.1:p.Ser676Asn
NM_001363813.1:c.2027G>A	NP_001350742.1:p.Ser676Asn
NM_004655.4:c.2222G>A MANE Select	NP_004646.3:p.Ser741Asn
XM_011525319.2:c.2222G>A	XP_011523621.1:p.Ser741Asn
XM_011525321.2:c.2222G>A	XP_011523623.1:p.Ser741Asn
XM_017025192.1:c.2222G>A	XP_016880681.1:p.Ser741Asn
XM_017025193.1:c.2027G>A	XP_016880682.1:p.Ser676Asn