Canonical Allele Identifier: CA6860961
Gene: TCTN2 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.123686948G>A
GRCh37 chr12:g.124171495G>A
Revel Score:
ENST00000426174 0.210
ENST00000303372 (MANE Select) 0.210
gnomAD v2:
12:124171495 G / A
gnomAD v3:
12:123686948 G / A
gnomAD v4:
chr12-123686948-G-A
Joint Max Group AF 0.00008441 (SAS)
Exomes Max Group AF 0.00008885 (SAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.123686948G>A , CM000674.2:g.123686948G>A GRCh38
NC_000012.11:g.124171495G>A , CM000674.1:g.124171495G>A GRCh37
NC_000012.10:g.122737448G>A NCBI36
NG_030442.1:g.20836G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000303372.7:c.677G>A MANE Select ENSP00000304941.5:p.Arg226His
ENST00000679504.1:c.674G>A ENSP00000505006.1:p.Arg225His
ENST00000680500.1:c.677G>A ENSP00000506438.1:p.Arg226His
ENST00000680574.1:c.677G>A ENSP00000505356.1:p.Arg226His
ENST00000303372.6:c.677G>A ENSP00000304941.5:p.Arg226His
ENST00000426174.6:c.674G>A ENSP00000395171.2:p.Arg225His
NM_001143850.2:c.674G>A NP_001137322.1:p.Arg225His
NM_024809.4:c.677G>A NP_079085.2:p.Arg226His
XM_005253623.2:c.677G>A XP_005253680.1:p.Arg226His
XM_006719605.2:c.677G>A XP_006719668.1:p.Arg226His
XM_006719605.3:c.677G>A XP_006719668.1:p.Arg226His
XM_017019974.1:c.674G>A XP_016875463.1:p.Arg225His
XM_017019975.1:c.-109G>A XP_016875464.1:n.-109G>A
NM_024809.5:c.677G>A MANE Select NP_079085.2:p.Arg226His
NM_001143850.3:c.674G>A NP_001137322.1:p.Arg225His
Search 100 bp 5'
Search 100 bp 3'