Canonical Allele Identifier: CA6861179
Community Standard Title: NM_024809.5(TCTN2):c.1329G>A (p.Lys443=)
Gene: TCTN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.123696431G>A , CM000674.2:g.123696431G>A GRCh38
NC_000012.11:g.124180978G>A , CM000674.1:g.124180978G>A GRCh37
NC_000012.10:g.122746931G>A NCBI36
NG_030442.1:g.30319G>A

Transcript Alleles

HGVS Amino-acid Change
NM_024809.5:c.1329G>A MANE Select NP_079085.2:p.Lys443=
ENST00000303372.7:c.1329G>A MANE Select ENSP00000304941.5:p.Lys443=
NM_001143850.2:c.1326G>A NP_001137322.1:p.Lys442=
NM_001143850.3:c.1326G>A NP_001137322.1:p.Lys442=
NM_024809.4:c.1329G>A NP_079085.2:p.Lys443=
ENST00000303372.6:c.1329G>A ENSP00000304941.5:p.Lys443=
ENST00000426174.6:c.1326G>A ENSP00000395171.2:p.Lys442=
ENST00000543998.1:n.1392G>A
ENST00000679504.1:c.1326G>A ENSP00000505006.1:p.Lys442=
ENST00000680394.1:n.430G>A
ENST00000680500.1:c.1329G>A ENSP00000506438.1:p.Lys443=
ENST00000680574.1:c.1194G>A ENSP00000505356.1:p.Lys398=
XM_005253623.2:c.1194G>A XP_005253680.1:p.Lys398=
XM_006719605.2:c.1329G>A XP_006719668.1:p.Lys443=
XM_006719605.3:c.1329G>A XP_006719668.1:p.Lys443=
XM_011538748.1:c.417G>A XP_011537050.1:p.Lys139=
XM_017019974.1:c.1191G>A XP_016875463.1:p.Lys397=
XM_017019975.1:c.417G>A XP_016875464.1:p.Lys139=