Canonical Allele Identifier: CA245445
Community Standard Title: NM_024809.5(TCTN2):c.429T>C (p.Ile143=)
Gene: TCTN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.123673776T>C , CM000674.2:g.123673776T>C GRCh38
NC_000012.11:g.124158323T>C , CM000674.1:g.124158323T>C GRCh37
NC_000012.10:g.122724276T>C NCBI36
NG_030442.1:g.7664T>C

Transcript Alleles

HGVS Amino-acid Change
NM_024809.5:c.429T>C MANE Select NP_079085.2:p.Ile143=
ENST00000303372.7:c.429T>C MANE Select ENSP00000304941.5:p.Ile143=
NM_001143850.2:c.426T>C NP_001137322.1:p.Ile142=
NM_001143850.3:c.426T>C NP_001137322.1:p.Ile142=
NM_024809.4:c.429T>C NP_079085.2:p.Ile143=
ENST00000303372.6:c.429T>C ENSP00000304941.5:p.Ile143=
ENST00000426174.6:c.426T>C ENSP00000395171.2:p.Ile142=
ENST00000679504.1:c.426T>C ENSP00000505006.1:p.Ile142=
ENST00000680500.1:c.429T>C ENSP00000506438.1:p.Ile143=
ENST00000680574.1:c.429T>C ENSP00000505356.1:p.Ile143=
XM_005253623.2:c.429T>C XP_005253680.1:p.Ile143=
XM_006719605.2:c.429T>C XP_006719668.1:p.Ile143=
XM_006719605.3:c.429T>C XP_006719668.1:p.Ile143=
XM_017019974.1:c.426T>C XP_016875463.1:p.Ile142=
XM_017019975.1:c.-357T>C XP_016875464.1:n.-357T>C