Canonical Allele Identifier: CA6861312

Gene: TCTN2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123704632G>A , CM000674.2:g.123704632G>A	GRCh38
NC_000012.11:g.124189179G>A , CM000674.1:g.124189179G>A	GRCh37
NC_000012.10:g.122755132G>A	NCBI36
NG_030442.1:g.38520G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024809.5:c.1713G>A MANE Select	NP_079085.2:p.Ser571=
ENST00000303372.7:c.1713G>A MANE Select	ENSP00000304941.5:p.Ser571=
NM_001143850.2:c.1710G>A	NP_001137322.1:p.Ser570=
NM_001143850.3:c.1710G>A	NP_001137322.1:p.Ser570=
NM_024809.4:c.1713G>A	NP_079085.2:p.Ser571=
ENST00000303372.6:c.1713G>A	ENSP00000304941.5:p.Ser571=
ENST00000426174.6:c.1710G>A	ENSP00000395171.2:p.Ser570=
ENST00000543998.1:n.2485G>A
ENST00000679504.1:c.1710G>A	ENSP00000505006.1:p.Ser570=
ENST00000680394.1:n.814G>A
ENST00000680500.1:c.*85G>A	ENSP00000506438.1:n.*85G>A
ENST00000680574.1:c.1578G>A	ENSP00000505356.1:p.Ser526=
XM_005253623.2:c.1578G>A	XP_005253680.1:p.Ser526=
XM_006719605.2:c.1713G>A	XP_006719668.1:p.Ser571=
XM_006719605.3:c.1713G>A	XP_006719668.1:p.Ser571=
XM_011538748.1:c.801G>A	XP_011537050.1:p.Ser267=
XM_017019974.1:c.1575G>A	XP_016875463.1:p.Ser525=
XM_017019975.1:c.801G>A	XP_016875464.1:p.Ser267=