Canonical Allele Identifier: CA387148648

Gene: TCTN2

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123706774C>A , CM000674.2:g.123706774C>A	GRCh38
NC_000012.11:g.124191321C>A , CM000674.1:g.124191321C>A	GRCh37
NC_000012.10:g.122757274C>A	NCBI36
NG_030442.1:g.40662C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303372.7:c.1818C>A MANE Select	ENSP00000304941.5:p.His606Gln
ENST00000679504.1:c.1815C>A	ENSP00000505006.1:p.His605Gln
ENST00000680394.1:n.919C>A
ENST00000680500.1:c.*190C>A	ENSP00000506438.1:n.*190C>A
ENST00000680574.1:c.1683C>A	ENSP00000505356.1:p.His561Gln
ENST00000303372.6:c.1818C>A	ENSP00000304941.5:p.His606Gln
ENST00000426174.6:c.1815C>A	ENSP00000395171.2:p.His605Gln
ENST00000543998.1:n.2590C>A
NM_001143850.2:c.1815C>A	NP_001137322.1:p.His605Gln
NM_024809.4:c.1818C>A	NP_079085.2:p.His606Gln
XM_005253623.2:c.1683C>A	XP_005253680.1:p.His561Gln
XM_006719605.2:c.1818C>A	XP_006719668.1:p.His606Gln
XM_011538748.1:c.906C>A	XP_011537050.1:p.His302Gln
XM_006719605.3:c.1818C>A	XP_006719668.1:p.His606Gln
XM_017019974.1:c.1680C>A	XP_016875463.1:p.His560Gln
XM_017019975.1:c.906C>A	XP_016875464.1:p.His302Gln
NM_024809.5:c.1818C>A MANE Select	NP_079085.2:p.His606Gln
NM_001143850.3:c.1815C>A	NP_001137322.1:p.His605Gln