Canonical Allele Identifier: CA15805468

Gene: STON2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.81312300G>A , CM000676.2:g.81312300G>A	GRCh38
NC_000014.8:g.81778644G>A , CM000676.1:g.81778644G>A	GRCh37
NC_000014.7:g.80848397G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553821.3:c.742+11717C>T	ENSP00000450577.3:n.742+11717C>T
ENST00000614646.5:c.742+11717C>T MANE Select	ENSP00000477736.2:n.742+11717C>T
ENST00000649389.1:c.742+11717C>T	ENSP00000498075.1:n.742+11717C>T
ENST00000652748.1:n.773-33561C>T
ENST00000267540.2:c.572-33561C>T	ENSP00000267540.2:n.572-33561C>T
ENST00000555447.5:c.572-33561C>T	ENSP00000450857.1:n.572-33561C>T
ENST00000556280.1:n.182-5550C>T
ENST00000614646.4:c.572-33561C>T	ENSP00000477736.1:n.572-33561C>T
NM_001256430.1:c.572-33561C>T	NP_001243359.1:n.572-33561C>T
NM_033104.3:c.572-33561C>T	NP_149095.2:n.572-33561C>T
XM_006720279.1:c.572-33561C>T	XP_006720342.1:n.572-33561C>T
XM_011537240.1:c.742+11717C>T	XP_011535542.1:n.742+11717C>T
XM_011537241.1:c.742+11717C>T	XP_011535543.1:n.742+11717C>T
XM_011537242.1:c.742+11717C>T	XP_011535544.1:n.742+11717C>T
XM_011537243.1:c.661+11717C>T	XP_011535545.1:n.661+11717C>T
NM_001256430.2:c.572-33561C>T	NP_001243359.1:n.572-33561C>T
NM_001366849.1:c.742+11717C>T	NP_001353778.1:n.742+11717C>T
NM_001366850.1:c.572-33561C>T	NP_001353779.1:n.572-33561C>T
XM_011537240.2:c.742+11717C>T	XP_011535542.1:n.742+11717C>T
XM_011537241.2:c.742+11717C>T	XP_011535543.1:n.742+11717C>T
XM_011537242.2:c.742+11717C>T	XP_011535544.1:n.742+11717C>T
XM_024449733.1:c.742+11717C>T	XP_024305501.1:n.742+11717C>T
XM_024449734.1:c.742+11717C>T	XP_024305502.1:n.742+11717C>T
XM_024449735.1:c.742+11717C>T	XP_024305503.1:n.742+11717C>T
XM_024449736.1:c.572-33561C>T	XP_024305504.1:n.572-33561C>T
NM_001366849.2:c.742+11717C>T	NP_001353778.1:n.742+11717C>T
NM_001366850.2:c.572-33561C>T	NP_001353779.1:n.572-33561C>T
NM_001256430.3:c.572-33561C>T	NP_001243359.1:n.572-33561C>T
NM_001394390.1:c.742+11717C>T MANE Select	NP_001381319.1:n.742+11717C>T