Canonical Allele Identifier: CA2668691658

Gene: SOX2 SOX2-OT

Linked Data

• gnomAD v4: 3-181713583-T-TTAA

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181713583_181713584insTAA , CM000665.2:g.181713583_181713584insTAA	GRCh38
NC_000003.11:g.181431371_181431372insTAA , CM000665.1:g.181431371_181431372insTAA	GRCh37
NC_000003.10:g.182914065_182914066insTAA	NCBI36
NG_009080.1:g.6650_6651insTAA , LRG_719:g.6650_6651insTAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325404.3:c.*269_*270insTAA (SOX2) MANE Select	ENSP00000323588.1:n.*269_*270insTAA
ENST00000325404.2:c.*269_*270insTAA (SOX2)	ENSP00000323588.1:n.*269_*270insTAA
NM_003106.3:c.*269_*270insTAA (SOX2)	NP_003097.1:n.*269_*270insTAA
NR_004053.3:n.768-1602_768-1601insTAA (SOX2-OT)
NR_075089.1:n.767+13700_767+13701insTAA (SOX2-OT)
NR_075090.1:n.482-25986_482-25985insTAA (SOX2-OT)
NR_075091.1:n.783-1602_783-1601insTAA (SOX2-OT)
NR_075092.1:n.782+13700_782+13701insTAA (SOX2-OT)
NR_075093.1:n.473-25986_473-25985insTAA (SOX2-OT)
NM_003106.4:c.*269_*270insTAA (SOX2) MANE Select	NP_003097.1:n.*269_*270insTAA