Allele Registry

Canonical Allele Identifier: CA236399

Gene: TCTN2 HGNC NCBI

Linked Data - Predicted Effect Evidence

MyVariant.info:

GRCh38 chr12:g.123672117_123672118del

GRCh37 chr12:g.124156664_124156665del

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000171472

ClinVar Variation:

191281

dbSNP:

786205622

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123672119_123672120del , CM000674.2:g.123672119_123672120del	GRCh38
NC_000012.11:g.124156666_124156667del , CM000674.1:g.124156666_124156667del	GRCh37
NC_000012.10:g.122722619_122722620del	NCBI36
NG_030442.1:g.6007_6008del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303372.7:c.254_255del MANE Select	ENSP00000304941.5:p.Val85AspfsTer24
ENST00000679504.1:c.254_255del	ENSP00000505006.1:p.Val85AspfsTer23
ENST00000680500.1:c.254_255del	ENSP00000506438.1:p.Val85AspfsTer24
ENST00000680574.1:c.254_255del	ENSP00000505356.1:p.Val85AspfsTer24
ENST00000303372.6:c.254_255del	ENSP00000304941.5:p.Val85AspfsTer24
ENST00000426174.6:c.254_255del	ENSP00000395171.2:p.Val85AspfsTer23
ENST00000541523.1:c.97_98del	ENSP00000437644.1:n.97_98del
NM_001143850.2:c.254_255del	NP_001137322.1:p.Val85AspfsTer23
NM_024809.4:c.254_255del	NP_079085.2:p.Val85AspfsTer24
XM_005253623.2:c.254_255del	XP_005253680.1:p.Val85AspfsTer24
XM_006719605.2:c.254_255del	XP_006719668.1:p.Val85AspfsTer24
XM_006719605.3:c.254_255del	XP_006719668.1:p.Val85AspfsTer24
XM_017019974.1:c.254_255del	XP_016875463.1:p.Val85AspfsTer23
XM_017019975.1:c.-529_-528del	XP_016875464.1:n.-529_-528del
NM_024809.5:c.254_255del MANE Select	NP_079085.2:p.Val85AspfsTer24
NM_001143850.3:c.254_255del	NP_001137322.1:p.Val85AspfsTer23

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