Canonical Allele Identifier: CA6860918
Gene: TCTN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 307547
dbSNP Id: rs761089886

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.123679292A>C , CM000674.2:g.123679292A>C GRCh38
NC_000012.11:g.124163839A>C , CM000674.1:g.124163839A>C GRCh37
NC_000012.10:g.122729792A>C NCBI36
NG_030442.1:g.13180A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000303372.7:c.564+3A>C MANE Select ENSP00000304941.5:n.564+3A>C
ENST00000679504.1:c.561+3A>C ENSP00000505006.1:n.561+3A>C
ENST00000680500.1:c.564+3A>C ENSP00000506438.1:n.564+3A>C
ENST00000680574.1:c.564+3A>C ENSP00000505356.1:n.564+3A>C
ENST00000303372.6:c.564+3A>C ENSP00000304941.5:n.564+3A>C
ENST00000426174.6:c.561+3A>C ENSP00000395171.2:n.561+3A>C
NM_001143850.2:c.561+3A>C NP_001137322.1:n.561+3A>C
NM_024809.4:c.564+3A>C NP_079085.2:n.564+3A>C
XM_005253623.2:c.564+3A>C XP_005253680.1:n.564+3A>C
XM_006719605.2:c.564+3A>C XP_006719668.1:n.564+3A>C
XM_006719605.3:c.564+3A>C XP_006719668.1:n.564+3A>C
XM_017019974.1:c.561+3A>C XP_016875463.1:n.561+3A>C
XM_017019975.1:c.-222+3A>C XP_016875464.1:n.-222+3A>C
NM_024809.5:c.564+3A>C MANE Select NP_079085.2:n.564+3A>C
NM_001143850.3:c.561+3A>C NP_001137322.1:n.561+3A>C