Canonical Allele Identifier: CA6861123

Gene: TCTN2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123694892C>T , CM000674.2:g.123694892C>T	GRCh38
NC_000012.11:g.124179439C>T , CM000674.1:g.124179439C>T	GRCh37
NC_000012.10:g.122745392C>T	NCBI36
NG_030442.1:g.28780C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024809.5:c.1150C>T MANE Select	NP_079085.2:p.His384Tyr
ENST00000303372.7:c.1150C>T MANE Select	ENSP00000304941.5:p.His384Tyr
NM_001143850.2:c.1147C>T	NP_001137322.1:p.His383Tyr
NM_001143850.3:c.1147C>T	NP_001137322.1:p.His383Tyr
NM_024809.4:c.1150C>T	NP_079085.2:p.His384Tyr
ENST00000303372.6:c.1150C>T	ENSP00000304941.5:p.His384Tyr
ENST00000426174.6:c.1147C>T	ENSP00000395171.2:p.His383Tyr
ENST00000679504.1:c.1147C>T	ENSP00000505006.1:p.His383Tyr
ENST00000680500.1:c.1150C>T	ENSP00000506438.1:p.His384Tyr
ENST00000680574.1:c.1100-328C>T	ENSP00000505356.1:n.1100-328C>T
XM_005253623.2:c.1100-328C>T	XP_005253680.1:n.1100-328C>T
XM_006719605.2:c.1150C>T	XP_006719668.1:p.His384Tyr
XM_006719605.3:c.1150C>T	XP_006719668.1:p.His384Tyr
XM_011538748.1:c.238C>T	XP_011537050.1:p.His80Tyr
XM_017019974.1:c.1097-328C>T	XP_016875463.1:n.1097-328C>T
XM_017019975.1:c.238C>T	XP_016875464.1:p.His80Tyr