Canonical Allele Identifier: CA387161342
Gene: TCTN2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.123686853A>C , CM000674.2:g.123686853A>C GRCh38
NC_000012.11:g.124171400A>C , CM000674.1:g.124171400A>C GRCh37
NC_000012.10:g.122737353A>C NCBI36
NG_030442.1:g.20741A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000303372.7:c.582A>C MANE Select ENSP00000304941.5:p.Leu194Phe
ENST00000679504.1:c.579A>C ENSP00000505006.1:p.Leu193Phe
ENST00000680500.1:c.582A>C ENSP00000506438.1:p.Leu194Phe
ENST00000680574.1:c.582A>C ENSP00000505356.1:p.Leu194Phe
ENST00000303372.6:c.582A>C ENSP00000304941.5:p.Leu194Phe
ENST00000426174.6:c.579A>C ENSP00000395171.2:p.Leu193Phe
NM_001143850.2:c.579A>C NP_001137322.1:p.Leu193Phe
NM_024809.4:c.582A>C NP_079085.2:p.Leu194Phe
XM_005253623.2:c.582A>C XP_005253680.1:p.Leu194Phe
XM_006719605.2:c.582A>C XP_006719668.1:p.Leu194Phe
XM_006719605.3:c.582A>C XP_006719668.1:p.Leu194Phe
XM_017019974.1:c.579A>C XP_016875463.1:p.Leu193Phe
XM_017019975.1:c.-204A>C XP_016875464.1:n.-204A>C
NM_024809.5:c.582A>C MANE Select NP_079085.2:p.Leu194Phe
NM_001143850.3:c.579A>C NP_001137322.1:p.Leu193Phe