Canonical Allele Identifier: CA482266242
Gene: TCTN2 HGNC NCBI
ClinVar RCV:
ClinVar Variation:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.123692707A>G , CM000674.2:g.123692707A>G GRCh38
NC_000012.11:g.124177254A>G , CM000674.1:g.124177254A>G GRCh37
NC_000012.10:g.122743207A>G NCBI36
NG_030442.1:g.26595A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000303372.7:c.1083A>G MANE Select ENSP00000304941.5:p.Lys361=
ENST00000679504.1:c.1080A>G ENSP00000505006.1:p.Lys360=
ENST00000680500.1:c.1083A>G ENSP00000506438.1:p.Lys361=
ENST00000680574.1:c.1083A>G ENSP00000505356.1:p.Lys361=
ENST00000303372.6:c.1083A>G ENSP00000304941.5:p.Lys361=
ENST00000426174.6:c.1080A>G ENSP00000395171.2:p.Lys360=
NM_001143850.2:c.1080A>G NP_001137322.1:p.Lys360=
NM_024809.4:c.1083A>G NP_079085.2:p.Lys361=
XM_005253623.2:c.1083A>G XP_005253680.1:p.Lys361=
XM_006719605.2:c.1083A>G XP_006719668.1:p.Lys361=
XM_011538748.1:c.171A>G XP_011537050.1:p.Lys57=
XM_006719605.3:c.1083A>G XP_006719668.1:p.Lys361=
XM_017019974.1:c.1080A>G XP_016875463.1:p.Lys360=
XM_017019975.1:c.171A>G XP_016875464.1:p.Lys57=
NM_024809.5:c.1083A>G MANE Select NP_079085.2:p.Lys361=
NM_001143850.3:c.1080A>G NP_001137322.1:p.Lys360=