Canonical Allele Identifier: CA288077

Gene: AXIN2

Linked Data

• ClinVar Variation Id: 127934
• ClinVar RCV Id: RCV000115866 ; RCV000227795 ; RCV000656767 ; RCV000417356 ; RCV004542820 ; RCV001010110
• dbSNP Id: rs139871607
• ExAC: 17:63534353 T / C
• gnomAD v2: 17-63534353-T-C
• gnomAD v3: 17-65538235-T-C
• gnomAD v4: 17-65538235-T-C
• MyVariant Identifiers: chr17:g.63534353T>C (hg19) ; chr17:g.65538235T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.65538235T>C , CM000679.2:g.65538235T>C	GRCh38
NC_000017.10:g.63534353T>C , CM000679.1:g.63534353T>C	GRCh37
NC_000017.9:g.60964815T>C	NCBI36
NG_012142.1:g.28388A>G , LRG_296:g.28388A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307078.10:c.1168A>G MANE Select	ENSP00000302625.5:p.Ser390Gly
ENST00000307078.9:c.1168A>G	ENSP00000302625.5:p.Ser390Gly
ENST00000375702.5:c.1168A>G	ENSP00000364854.5:p.Ser390Gly
ENST00000577662.1:c.1483A>G
ENST00000611991.1:c.397-9535A>G	ENSP00000481191.1:n.397-9535A>G
ENST00000618960.4:c.1168A>G	ENSP00000478916.1:p.Ser390Gly
NM_004655.3:c.1168A>G , LRG_296t1:c.1168A>G	NP_004646.3:p.Ser390Gly
XM_011525319.1:c.1168A>G	XP_011523621.1:p.Ser390Gly
XM_011525320.1:c.1168A>G	XP_011523622.1:p.Ser390Gly
XM_011525321.1:c.1168A>G	XP_011523623.1:p.Ser390Gly
XM_011525322.1:c.1168A>G	XP_011523624.1:p.Ser390Gly
NM_001363813.1:c.1168A>G	NP_001350742.1:p.Ser390Gly
NM_004655.4:c.1168A>G MANE Select	NP_004646.3:p.Ser390Gly
XM_011525319.2:c.1168A>G	XP_011523621.1:p.Ser390Gly
XM_011525321.2:c.1168A>G	XP_011523623.1:p.Ser390Gly
XM_017025192.1:c.1168A>G	XP_016880681.1:p.Ser390Gly
XM_017025193.1:c.1168A>G	XP_016880682.1:p.Ser390Gly