Canonical Allele Identifier: CA387140357
Community Standard Title: NM_024809.5(TCTN2):c.1033+1G>A
Gene: TCTN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.123690675G>A , CM000674.2:g.123690675G>A GRCh38
NC_000012.11:g.124175222G>A , CM000674.1:g.124175222G>A GRCh37
NC_000012.10:g.122741175G>A NCBI36
NG_030442.1:g.24563G>A

Transcript Alleles

HGVS Amino-acid Change
NM_024809.5:c.1033+1G>A MANE Select NP_079085.2:n.1033+1G>A
ENST00000303372.7:c.1033+1G>A MANE Select ENSP00000304941.5:n.1033+1G>A
NM_001143850.2:c.1030+1G>A NP_001137322.1:n.1030+1G>A
NM_001143850.3:c.1030+1G>A NP_001137322.1:n.1030+1G>A
NM_024809.4:c.1033+1G>A NP_079085.2:n.1033+1G>A
ENST00000303372.6:c.1033+1G>A ENSP00000304941.5:n.1033+1G>A
ENST00000426174.6:c.1030+1G>A ENSP00000395171.2:n.1030+1G>A
ENST00000679504.1:c.1030+1G>A ENSP00000505006.1:n.1030+1G>A
ENST00000680500.1:c.1033+1G>A ENSP00000506438.1:n.1033+1G>A
ENST00000680574.1:c.1033+1G>A ENSP00000505356.1:n.1033+1G>A
XM_005253623.2:c.1033+1G>A XP_005253680.1:n.1033+1G>A
XM_006719605.2:c.1033+1G>A XP_006719668.1:n.1033+1G>A
XM_006719605.3:c.1033+1G>A XP_006719668.1:n.1033+1G>A
XM_011538748.1:c.121+1G>A XP_011537050.1:n.121+1G>A
XM_017019974.1:c.1030+1G>A XP_016875463.1:n.1030+1G>A
XM_017019975.1:c.121+1G>A XP_016875464.1:n.121+1G>A