Canonical Allele Identifier: CA279400
Gene: TCTN2 HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.123671316del , CM000674.2:g.123671316del GRCh38
NC_000012.11:g.124155863del , CM000674.1:g.124155863del GRCh37
NC_000012.10:g.122721816del NCBI36
NG_030442.1:g.5204del

Transcript Alleles

HGVS Amino-acid Change
ENST00000303372.7:c.76del MANE Select ENSP00000304941.5:p.Asp26ThrfsTer27
ENST00000679504.1:c.76del ENSP00000505006.1:p.Asp26ThrfsTer27
ENST00000680500.1:c.76del ENSP00000506438.1:p.Asp26ThrfsTer27
ENST00000680574.1:c.76del ENSP00000505356.1:p.Asp26ThrfsTer27
ENST00000303372.6:c.76del ENSP00000304941.5:p.Asp26ThrfsTer27
ENST00000426174.6:c.76del ENSP00000395171.2:p.Asp26ThrfsTer27
ENST00000541523.1:c.76del ENSP00000437644.1:p.Asp26ThrfsTer9
NM_001143850.2:c.76del NP_001137322.1:p.Asp26ThrfsTer27
NM_024809.4:c.76del NP_079085.2:p.Asp26ThrfsTer27
XM_005253623.2:c.76del XP_005253680.1:p.Asp26ThrfsTer27
XM_006719605.2:c.76del XP_006719668.1:p.Asp26ThrfsTer27
XM_006719605.3:c.76del XP_006719668.1:p.Asp26ThrfsTer27
XM_017019974.1:c.76del XP_016875463.1:p.Asp26ThrfsTer27
XM_017019975.1:c.-707del XP_016875464.1:n.-707del
NM_024809.5:c.76del MANE Select NP_079085.2:p.Asp26ThrfsTer27
NM_001143850.3:c.76del NP_001137322.1:p.Asp26ThrfsTer27