Canonical Allele Identifier: CA482265880

Gene: TCTN2

Linked Data

• dbSNP Id: rs1232143433
• gnomAD v2: 12-124156109-C-A
• gnomAD v4: 12-123671562-C-A
• MyVariant Identifiers: chr12:g.124156109C>A (hg19) ; chr12:g.123671562C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123671562C>A , CM000674.2:g.123671562C>A	GRCh38
NC_000012.11:g.124156109C>A , CM000674.1:g.124156109C>A	GRCh37
NC_000012.10:g.122722062C>A	NCBI36
NG_030442.1:g.5450C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303372.7:c.138C>A MANE Select	ENSP00000304941.5:p.Val46=
ENST00000679504.1:c.138C>A	ENSP00000505006.1:p.Val46=
ENST00000680500.1:c.138C>A	ENSP00000506438.1:p.Val46=
ENST00000680574.1:c.138C>A	ENSP00000505356.1:p.Val46=
ENST00000303372.6:c.138C>A	ENSP00000304941.5:p.Val46=
ENST00000426174.6:c.138C>A	ENSP00000395171.2:p.Val46=
ENST00000541523.1:c.164C>A	ENSP00000437644.1:p.Ser55Ter
NM_001143850.2:c.138C>A	NP_001137322.1:p.Val46=
NM_024809.4:c.138C>A	NP_079085.2:p.Val46=
XM_005253623.2:c.138C>A	XP_005253680.1:p.Val46=
XM_006719605.2:c.138C>A	XP_006719668.1:p.Val46=
XM_006719605.3:c.138C>A	XP_006719668.1:p.Val46=
XM_017019974.1:c.138C>A	XP_016875463.1:p.Val46=
XM_017019975.1:c.-645C>A	XP_016875464.1:n.-645C>A
NM_024809.5:c.138C>A MANE Select	NP_079085.2:p.Val46=
NM_001143850.3:c.138C>A	NP_001137322.1:p.Val46=