Canonical Allele Identifier: CA387144323
Community Standard Title: NM_024809.5(TCTN2):c.1317C>G (p.Tyr439Ter)
Gene: TCTN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.123696419C>G , CM000674.2:g.123696419C>G GRCh38
NC_000012.11:g.124180966C>G , CM000674.1:g.124180966C>G GRCh37
NC_000012.10:g.122746919C>G NCBI36
NG_030442.1:g.30307C>G

Transcript Alleles

HGVS Amino-acid Change
NM_024809.5:c.1317C>G MANE Select NP_079085.2:p.Tyr439Ter
ENST00000303372.7:c.1317C>G MANE Select ENSP00000304941.5:p.Tyr439Ter
NM_001143850.2:c.1314C>G NP_001137322.1:p.Tyr438Ter
NM_001143850.3:c.1314C>G NP_001137322.1:p.Tyr438Ter
NM_024809.4:c.1317C>G NP_079085.2:p.Tyr439Ter
ENST00000303372.6:c.1317C>G ENSP00000304941.5:p.Tyr439Ter
ENST00000426174.6:c.1314C>G ENSP00000395171.2:p.Tyr438Ter
ENST00000543998.1:n.1380C>G
ENST00000679504.1:c.1314C>G ENSP00000505006.1:p.Tyr438Ter
ENST00000680394.1:n.418C>G
ENST00000680500.1:c.1317C>G ENSP00000506438.1:p.Tyr439Ter
ENST00000680574.1:c.1182C>G ENSP00000505356.1:p.Tyr394Ter
XM_005253623.2:c.1182C>G XP_005253680.1:p.Tyr394Ter
XM_006719605.2:c.1317C>G XP_006719668.1:p.Tyr439Ter
XM_006719605.3:c.1317C>G XP_006719668.1:p.Tyr439Ter
XM_011538748.1:c.405C>G XP_011537050.1:p.Tyr135Ter
XM_017019974.1:c.1179C>G XP_016875463.1:p.Tyr393Ter
XM_017019975.1:c.405C>G XP_016875464.1:p.Tyr135Ter