Canonical Allele Identifier: CA6861295
Community Standard Title: NM_024809.5(TCTN2):c.1662C>T (p.Asn554=)
Gene: TCTN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.123704581C>T , CM000674.2:g.123704581C>T GRCh38
NC_000012.11:g.124189128C>T , CM000674.1:g.124189128C>T GRCh37
NC_000012.10:g.122755081C>T NCBI36
NG_030442.1:g.38469C>T

Transcript Alleles

HGVS Amino-acid Change
NM_024809.5:c.1662C>T MANE Select NP_079085.2:p.Asn554=
ENST00000303372.7:c.1662C>T MANE Select ENSP00000304941.5:p.Asn554=
NM_001143850.2:c.1659C>T NP_001137322.1:p.Asn553=
NM_001143850.3:c.1659C>T NP_001137322.1:p.Asn553=
NM_024809.4:c.1662C>T NP_079085.2:p.Asn554=
ENST00000303372.6:c.1662C>T ENSP00000304941.5:p.Asn554=
ENST00000426174.6:c.1659C>T ENSP00000395171.2:p.Asn553=
ENST00000543998.1:n.2434C>T
ENST00000679504.1:c.1659C>T ENSP00000505006.1:p.Asn553=
ENST00000680394.1:n.763C>T
ENST00000680500.1:c.*34C>T ENSP00000506438.1:n.*34C>T
ENST00000680574.1:c.1527C>T ENSP00000505356.1:p.Asn509=
XM_005253623.2:c.1527C>T XP_005253680.1:p.Asn509=
XM_006719605.2:c.1662C>T XP_006719668.1:p.Asn554=
XM_006719605.3:c.1662C>T XP_006719668.1:p.Asn554=
XM_011538748.1:c.750C>T XP_011537050.1:p.Asn250=
XM_017019974.1:c.1524C>T XP_016875463.1:p.Asn508=
XM_017019975.1:c.750C>T XP_016875464.1:p.Asn250=