Canonical Allele Identifier: CA387148725

Gene: TCTN2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123706808C>T , CM000674.2:g.123706808C>T	GRCh38
NC_000012.11:g.124191355C>T , CM000674.1:g.124191355C>T	GRCh37
NC_000012.10:g.122757308C>T	NCBI36
NG_030442.1:g.40696C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024809.5:c.1852C>T MANE Select	NP_079085.2:p.Gln618Ter
ENST00000303372.7:c.1852C>T MANE Select	ENSP00000304941.5:p.Gln618Ter
NM_001143850.2:c.1849C>T	NP_001137322.1:p.Gln617Ter
NM_001143850.3:c.1849C>T	NP_001137322.1:p.Gln617Ter
NM_024809.4:c.1852C>T	NP_079085.2:p.Gln618Ter
ENST00000303372.6:c.1852C>T	ENSP00000304941.5:p.Gln618Ter
ENST00000426174.6:c.1849C>T	ENSP00000395171.2:p.Gln617Ter
ENST00000543998.1:n.2624C>T
ENST00000679504.1:c.1849C>T	ENSP00000505006.1:p.Gln617Ter
ENST00000680394.1:n.953C>T
ENST00000680500.1:c.*224C>T	ENSP00000506438.1:n.*224C>T
ENST00000680574.1:c.1717C>T	ENSP00000505356.1:p.Gln573Ter
XM_005253623.2:c.1717C>T	XP_005253680.1:p.Gln573Ter
XM_006719605.2:c.1852C>T	XP_006719668.1:p.Gln618Ter
XM_006719605.3:c.1852C>T	XP_006719668.1:p.Gln618Ter
XM_011538748.1:c.940C>T	XP_011537050.1:p.Gln314Ter
XM_017019974.1:c.1714C>T	XP_016875463.1:p.Gln572Ter
XM_017019975.1:c.940C>T	XP_016875464.1:p.Gln314Ter