Canonical Allele Identifier: CA245195428
Gene: TCTN2 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.123686884G>A
GRCh37 chr12:g.124171431G>A
Revel Score:
ENST00000426174 0.550
ENST00000303372 (MANE Select) 0.550
gnomAD v2:
12:124171431 G / A
gnomAD v3:
12:123686884 G / A
gnomAD v4:
chr12-123686884-G-A
Joint Max Group AF 0.00000615 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00000531 (NFE)
ClinVar RCV:
RCV002746738
ClinVar Variation:
1975729
dbSNP:
201827132
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.123686884G>A , CM000674.2:g.123686884G>A GRCh38
NC_000012.11:g.124171431G>A , CM000674.1:g.124171431G>A GRCh37
NC_000012.10:g.122737384G>A NCBI36
NG_030442.1:g.20772G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000303372.7:c.613G>A MANE Select ENSP00000304941.5:p.Gly205Ser
ENST00000679504.1:c.610G>A ENSP00000505006.1:p.Gly204Ser
ENST00000680500.1:c.613G>A ENSP00000506438.1:p.Gly205Ser
ENST00000680574.1:c.613G>A ENSP00000505356.1:p.Gly205Ser
ENST00000303372.6:c.613G>A ENSP00000304941.5:p.Gly205Ser
ENST00000426174.6:c.610G>A ENSP00000395171.2:p.Gly204Ser
NM_001143850.2:c.610G>A NP_001137322.1:p.Gly204Ser
NM_024809.4:c.613G>A NP_079085.2:p.Gly205Ser
XM_005253623.2:c.613G>A XP_005253680.1:p.Gly205Ser
XM_006719605.2:c.613G>A XP_006719668.1:p.Gly205Ser
XM_006719605.3:c.613G>A XP_006719668.1:p.Gly205Ser
XM_017019974.1:c.610G>A XP_016875463.1:p.Gly204Ser
XM_017019975.1:c.-173G>A XP_016875464.1:n.-173G>A
NM_024809.5:c.613G>A MANE Select NP_079085.2:p.Gly205Ser
NM_001143850.3:c.610G>A NP_001137322.1:p.Gly204Ser
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