Canonical Allele Identifier: CA6860856

Gene: TCTN2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123673618G>T , CM000674.2:g.123673618G>T	GRCh38
NC_000012.11:g.124158165G>T , CM000674.1:g.124158165G>T	GRCh37
NC_000012.10:g.122724118G>T	NCBI36
NG_030442.1:g.7506G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024809.5:c.271G>T MANE Select	NP_079085.2:p.Val91Leu
ENST00000303372.7:c.271G>T MANE Select	ENSP00000304941.5:p.Val91Leu
NM_001143850.2:c.268G>T	NP_001137322.1:p.Val90Leu
NM_001143850.3:c.268G>T	NP_001137322.1:p.Val90Leu
NM_024809.4:c.271G>T	NP_079085.2:p.Val91Leu
ENST00000303372.6:c.271G>T	ENSP00000304941.5:p.Val91Leu
ENST00000426174.6:c.268G>T	ENSP00000395171.2:p.Val90Leu
ENST00000541523.1:c.*114G>T	ENSP00000437644.1:n.*114G>T
ENST00000679504.1:c.268G>T	ENSP00000505006.1:p.Val90Leu
ENST00000680500.1:c.271G>T	ENSP00000506438.1:p.Val91Leu
ENST00000680574.1:c.271G>T	ENSP00000505356.1:p.Val91Leu
XM_005253623.2:c.271G>T	XP_005253680.1:p.Val91Leu
XM_006719605.2:c.271G>T	XP_006719668.1:p.Val91Leu
XM_006719605.3:c.271G>T	XP_006719668.1:p.Val91Leu
XM_017019974.1:c.268G>T	XP_016875463.1:p.Val90Leu
XM_017019975.1:c.-515G>T	XP_016875464.1:n.-515G>T