Canonical Allele Identifier: CA952816414

Gene: TCTN2

Linked Data

• dbSNP Id: rs1290045827
• gnomAD v3: 12-123671394-G-T
• gnomAD v4: 12-123671394-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123671394G>T , CM000674.2:g.123671394G>T	GRCh38
NC_000012.11:g.124155941G>T , CM000674.1:g.124155941G>T	GRCh37
NC_000012.10:g.122721894G>T	NCBI36
NG_030442.1:g.5282G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303372.7:c.82+72G>T MANE Select	ENSP00000304941.5:n.82+72G>T
ENST00000679504.1:c.82+72G>T	ENSP00000505006.1:n.82+72G>T
ENST00000680500.1:c.82+72G>T	ENSP00000506438.1:n.82+72G>T
ENST00000680574.1:c.82+72G>T	ENSP00000505356.1:n.82+72G>T
ENST00000303372.6:c.82+72G>T	ENSP00000304941.5:n.82+72G>T
ENST00000426174.6:c.82+72G>T	ENSP00000395171.2:n.82+72G>T
ENST00000541523.1:c.108+46G>T	ENSP00000437644.1:n.108+46G>T
NM_001143850.2:c.82+72G>T	NP_001137322.1:n.82+72G>T
NM_024809.4:c.82+72G>T	NP_079085.2:n.82+72G>T
XM_005253623.2:c.82+72G>T	XP_005253680.1:n.82+72G>T
XM_006719605.2:c.82+72G>T	XP_006719668.1:n.82+72G>T
XM_006719605.3:c.82+72G>T	XP_006719668.1:n.82+72G>T
XM_017019974.1:c.82+72G>T	XP_016875463.1:n.82+72G>T
XM_017019975.1:c.-701+72G>T	XP_016875464.1:n.-701+72G>T
NM_024809.5:c.82+72G>T MANE Select	NP_079085.2:n.82+72G>T
NM_001143850.3:c.82+72G>T	NP_001137322.1:n.82+72G>T