Canonical Allele Identifier: CA6861063
Community Standard Title: NM_024809.5(TCTN2):c.1007C>T (p.Ala336Val)
Gene: TCTN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.123690648C>T , CM000674.2:g.123690648C>T GRCh38
NC_000012.11:g.124175195C>T , CM000674.1:g.124175195C>T GRCh37
NC_000012.10:g.122741148C>T NCBI36
NG_030442.1:g.24536C>T

Transcript Alleles

HGVS Amino-acid Change
NM_024809.5:c.1007C>T MANE Select NP_079085.2:p.Ala336Val
ENST00000303372.7:c.1007C>T MANE Select ENSP00000304941.5:p.Ala336Val
NM_001143850.2:c.1004C>T NP_001137322.1:p.Ala335Val
NM_001143850.3:c.1004C>T NP_001137322.1:p.Ala335Val
NM_024809.4:c.1007C>T NP_079085.2:p.Ala336Val
ENST00000303372.6:c.1007C>T ENSP00000304941.5:p.Ala336Val
ENST00000426174.6:c.1004C>T ENSP00000395171.2:p.Ala335Val
ENST00000679504.1:c.1004C>T ENSP00000505006.1:p.Ala335Val
ENST00000680500.1:c.1007C>T ENSP00000506438.1:p.Ala336Val
ENST00000680574.1:c.1007C>T ENSP00000505356.1:p.Ala336Val
XM_005253623.2:c.1007C>T XP_005253680.1:p.Ala336Val
XM_006719605.2:c.1007C>T XP_006719668.1:p.Ala336Val
XM_006719605.3:c.1007C>T XP_006719668.1:p.Ala336Val
XM_011538748.1:c.95C>T XP_011537050.1:p.Ala32Val
XM_017019974.1:c.1004C>T XP_016875463.1:p.Ala335Val
XM_017019975.1:c.95C>T XP_016875464.1:p.Ala32Val