Canonical Allele Identifier: CA387144873
Community Standard Title: NM_024809.5(TCTN2):c.1436T>G (p.Leu479Ter)
Gene: TCTN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.123697129T>G , CM000674.2:g.123697129T>G GRCh38
NC_000012.11:g.124181676T>G , CM000674.1:g.124181676T>G GRCh37
NC_000012.10:g.122747629T>G NCBI36
NG_030442.1:g.31017T>G

Transcript Alleles

HGVS Amino-acid Change
NM_024809.5:c.1436T>G MANE Select NP_079085.2:p.Leu479Ter
ENST00000303372.7:c.1436T>G MANE Select ENSP00000304941.5:p.Leu479Ter
NM_001143850.2:c.1433T>G NP_001137322.1:p.Leu478Ter
NM_001143850.3:c.1433T>G NP_001137322.1:p.Leu478Ter
NM_024809.4:c.1436T>G NP_079085.2:p.Leu479Ter
ENST00000303372.6:c.1436T>G ENSP00000304941.5:p.Leu479Ter
ENST00000426174.6:c.1433T>G ENSP00000395171.2:p.Leu478Ter
ENST00000543998.1:n.2090T>G
ENST00000679504.1:c.1433T>G ENSP00000505006.1:p.Leu478Ter
ENST00000680394.1:n.537T>G
ENST00000680500.1:c.1436T>G ENSP00000506438.1:p.Leu479Ter
ENST00000680574.1:c.1301T>G ENSP00000505356.1:p.Leu434Ter
XM_005253623.2:c.1301T>G XP_005253680.1:p.Leu434Ter
XM_006719605.2:c.1436T>G XP_006719668.1:p.Leu479Ter
XM_006719605.3:c.1436T>G XP_006719668.1:p.Leu479Ter
XM_011538748.1:c.524T>G XP_011537050.1:p.Leu175Ter
XM_017019974.1:c.1298T>G XP_016875463.1:p.Leu433Ter
XM_017019975.1:c.524T>G XP_016875464.1:p.Leu175Ter