Canonical Allele Identifier: CA89241919

Gene: SOX2 SOX2-OT

Linked Data

• dbSNP Id: rs1016656763
• gnomAD v3: 3-181713486-AACACC-A
• gnomAD v4: 3-181713486-AACACC-A
• MyVariant Identifiers: chr3:g.181431275_181431279del (hg19) ; chr3:g.181713487_181713491del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.181713488_181713492del , CM000665.2:g.181713488_181713492del	GRCh38
NC_000003.11:g.181431276_181431280del , CM000665.1:g.181431276_181431280del	GRCh37
NC_000003.10:g.182913970_182913974del	NCBI36
NG_009080.1:g.6555_6559del , LRG_719:g.6555_6559del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325404.3:c.*174_*178del (SOX2) MANE Select	ENSP00000323588.1:n.*174_*178del
ENST00000325404.2:c.*174_*178del (SOX2)	ENSP00000323588.1:n.*174_*178del
NM_003106.3:c.*174_*178del (SOX2)	NP_003097.1:n.*174_*178del
NR_004053.3:n.768-1697_768-1693del (SOX2-OT)
NR_075089.1:n.767+13605_767+13609del (SOX2-OT)
NR_075090.1:n.482-26081_482-26077del (SOX2-OT)
NR_075091.1:n.783-1697_783-1693del (SOX2-OT)
NR_075092.1:n.782+13605_782+13609del (SOX2-OT)
NR_075093.1:n.473-26081_473-26077del (SOX2-OT)
NM_003106.4:c.*174_*178del (SOX2) MANE Select	NP_003097.1:n.*174_*178del