Canonical Allele Identifier: CA11798027

Gene: STOX2

Linked Data

• dbSNP Id: rs12498735
• gnomAD v2: 4-184921299-C-T
• gnomAD v3: 4-184000146-C-T
• gnomAD v4: 4-184000146-C-T
• MyVariant Identifiers: chr4:g.184921299C>T (hg19) ; chr4:g.184000146C>T (hg38)
• Allelic Epigenome: Alellic Epigenome (raw data)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.184000146C>T , CM000666.2:g.184000146C>T	GRCh38
NC_000004.11:g.184921299C>T , CM000666.1:g.184921299C>T	GRCh37
NC_000004.10:g.185158293C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000308497.9:c.167-1179C>T MANE Select	ENSP00000311257.4:n.167-1179C>T
ENST00000513034.3:c.365-1179C>T	ENSP00000422118.3:n.365-1179C>T
ENST00000308497.8:c.167-1179C>T	ENSP00000311257.4:n.167-1179C>T
ENST00000511250.1:n.414-1179C>T
ENST00000512520.1:c.-20-1179C>T	ENSP00000425388.1:n.-20-1179C>T
NM_020225.1:c.167-1179C>T	NP_064610.1:n.167-1179C>T
NM_020225.2:c.167-1179C>T	NP_064610.1:n.167-1179C>T
NR_132761.1:n.35-1179C>T
XM_011532129.1:c.365-1179C>T	XP_011530431.1:n.365-1179C>T
XM_011532130.1:c.365-1179C>T	XP_011530432.1:n.365-1179C>T
XM_011532131.1:c.29-1179C>T	XP_011530433.1:n.29-1179C>T
XM_011532132.1:c.26-1179C>T	XP_011530434.1:n.26-1179C>T
XR_938767.1:n.1726-1179C>T
XM_017008466.1:c.365-1179C>T	XP_016863955.1:n.365-1179C>T
XM_017008467.1:c.26-1179C>T	XP_016863956.1:n.26-1179C>T
XM_024454155.1:c.-20-1179C>T	XP_024309923.1:n.-20-1179C>T
XM_024454156.1:c.-20-1179C>T	XP_024309924.1:n.-20-1179C>T
XM_024454157.1:c.-20-1179C>T	XP_024309925.1:n.-20-1179C>T
NM_020225.3:c.167-1179C>T MANE Select	NP_064610.1:n.167-1179C>T