Canonical Allele Identifier: CA2668691868

Gene: SOX2 SOX2-OT

Linked Data

• gnomAD v4: 3-181713702-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181713702G>T , CM000665.2:g.181713702G>T	GRCh38
NC_000003.11:g.181431490G>T , CM000665.1:g.181431490G>T	GRCh37
NC_000003.10:g.182914184G>T	NCBI36
NG_009080.1:g.6769G>T , LRG_719:g.6769G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000325404.3:c.*388G>T (SOX2) MANE Select	ENSP00000323588.1:n.*388G>T
ENST00000325404.2:c.*388G>T (SOX2)	ENSP00000323588.1:n.*388G>T
NM_003106.3:c.*388G>T (SOX2)	NP_003097.1:n.*388G>T
NR_004053.3:n.768-1483G>T (SOX2-OT)
NR_075089.1:n.767+13819G>T (SOX2-OT)
NR_075090.1:n.482-25867G>T (SOX2-OT)
NR_075091.1:n.783-1483G>T (SOX2-OT)
NR_075092.1:n.782+13819G>T (SOX2-OT)
NR_075093.1:n.473-25867G>T (SOX2-OT)
NM_003106.4:c.*388G>T (SOX2) MANE Select	NP_003097.1:n.*388G>T