Canonical Allele Identifier: CA6861324
Community Standard Title: NM_024809.5(TCTN2):c.1752A>G (p.Ile584Met)
Gene: TCTN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.123704671A>G , CM000674.2:g.123704671A>G GRCh38
NC_000012.11:g.124189218A>G , CM000674.1:g.124189218A>G GRCh37
NC_000012.10:g.122755171A>G NCBI36
NG_030442.1:g.38559A>G

Transcript Alleles

HGVS Amino-acid Change
NM_024809.5:c.1752A>G MANE Select NP_079085.2:p.Ile584Met
ENST00000303372.7:c.1752A>G MANE Select ENSP00000304941.5:p.Ile584Met
NM_001143850.2:c.1749A>G NP_001137322.1:p.Ile583Met
NM_001143850.3:c.1749A>G NP_001137322.1:p.Ile583Met
NM_024809.4:c.1752A>G NP_079085.2:p.Ile584Met
ENST00000303372.6:c.1752A>G ENSP00000304941.5:p.Ile584Met
ENST00000426174.6:c.1749A>G ENSP00000395171.2:p.Ile583Met
ENST00000543998.1:n.2524A>G
ENST00000679504.1:c.1749A>G ENSP00000505006.1:p.Ile583Met
ENST00000680394.1:n.853A>G
ENST00000680500.1:c.*124A>G ENSP00000506438.1:n.*124A>G
ENST00000680574.1:c.1617A>G ENSP00000505356.1:p.Ile539Met
XM_005253623.2:c.1617A>G XP_005253680.1:p.Ile539Met
XM_006719605.2:c.1752A>G XP_006719668.1:p.Ile584Met
XM_006719605.3:c.1752A>G XP_006719668.1:p.Ile584Met
XM_011538748.1:c.840A>G XP_011537050.1:p.Ile280Met
XM_017019974.1:c.1614A>G XP_016875463.1:p.Ile538Met
XM_017019975.1:c.840A>G XP_016875464.1:p.Ile280Met