Canonical Allele Identifier: CA6860870
Community Standard Title: NM_024809.5(TCTN2):c.333T>C (p.Asp111=)
Gene: TCTN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.123673680T>C , CM000674.2:g.123673680T>C GRCh38
NC_000012.11:g.124158227T>C , CM000674.1:g.124158227T>C GRCh37
NC_000012.10:g.122724180T>C NCBI36
NG_030442.1:g.7568T>C

Transcript Alleles

HGVS Amino-acid Change
NM_024809.5:c.333T>C MANE Select NP_079085.2:p.Asp111=
ENST00000303372.7:c.333T>C MANE Select ENSP00000304941.5:p.Asp111=
NM_001143850.2:c.330T>C NP_001137322.1:p.Asp110=
NM_001143850.3:c.330T>C NP_001137322.1:p.Asp110=
NM_024809.4:c.333T>C NP_079085.2:p.Asp111=
ENST00000303372.6:c.333T>C ENSP00000304941.5:p.Asp111=
ENST00000426174.6:c.330T>C ENSP00000395171.2:p.Asp110=
ENST00000541523.1:c.*176T>C ENSP00000437644.1:n.*176T>C
ENST00000679504.1:c.330T>C ENSP00000505006.1:p.Asp110=
ENST00000680500.1:c.333T>C ENSP00000506438.1:p.Asp111=
ENST00000680574.1:c.333T>C ENSP00000505356.1:p.Asp111=
XM_005253623.2:c.333T>C XP_005253680.1:p.Asp111=
XM_006719605.2:c.333T>C XP_006719668.1:p.Asp111=
XM_006719605.3:c.333T>C XP_006719668.1:p.Asp111=
XM_017019974.1:c.330T>C XP_016875463.1:p.Asp110=
XM_017019975.1:c.-453T>C XP_016875464.1:n.-453T>C