Canonical Allele Identifier: CA482266041
Community Standard Title: NM_024809.5(TCTN2):c.957A>G (p.Lys319=)
Gene: TCTN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.123690598A>G , CM000674.2:g.123690598A>G GRCh38
NC_000012.11:g.124175145A>G , CM000674.1:g.124175145A>G GRCh37
NC_000012.10:g.122741098A>G NCBI36
NG_030442.1:g.24486A>G

Transcript Alleles

HGVS Amino-acid Change
NM_024809.5:c.957A>G MANE Select NP_079085.2:p.Lys319=
ENST00000303372.7:c.957A>G MANE Select ENSP00000304941.5:p.Lys319=
NM_001143850.2:c.954A>G NP_001137322.1:p.Lys318=
NM_001143850.3:c.954A>G NP_001137322.1:p.Lys318=
NM_024809.4:c.957A>G NP_079085.2:p.Lys319=
ENST00000303372.6:c.957A>G ENSP00000304941.5:p.Lys319=
ENST00000426174.6:c.954A>G ENSP00000395171.2:p.Lys318=
ENST00000679504.1:c.954A>G ENSP00000505006.1:p.Lys318=
ENST00000680500.1:c.957A>G ENSP00000506438.1:p.Lys319=
ENST00000680574.1:c.957A>G ENSP00000505356.1:p.Lys319=
XM_005253623.2:c.957A>G XP_005253680.1:p.Lys319=
XM_006719605.2:c.957A>G XP_006719668.1:p.Lys319=
XM_006719605.3:c.957A>G XP_006719668.1:p.Lys319=
XM_011538748.1:c.45A>G XP_011537050.1:p.Lys15=
XM_017019974.1:c.954A>G XP_016875463.1:p.Lys318=
XM_017019975.1:c.45A>G XP_016875464.1:p.Lys15=