Canonical Allele Identifier: CA150964

Gene: TCTN2

Linked Data

• ClinVar Variation Id: 126288
• ClinVar RCV Id: RCV000114230 ; RCV000204827 ; RCV000625192 ; RCV001110871 ; RCV003390794
• dbSNP Id: rs79251326
• ExAC: 12:124171417 G / A
• gnomAD v2: 12-124171417-G-A
• gnomAD v3: 12-123686870-G-A
• gnomAD v4: 12-123686870-G-A
• MyVariant Identifiers: chr12:g.124171417G>A (hg19) ; chr12:g.123686870G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123686870G>A , CM000674.2:g.123686870G>A	GRCh38
NC_000012.11:g.124171417G>A , CM000674.1:g.124171417G>A	GRCh37
NC_000012.10:g.122737370G>A	NCBI36
NG_030442.1:g.20758G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303372.7:c.599G>A MANE Select	ENSP00000304941.5:p.Arg200Gln
ENST00000679504.1:c.596G>A	ENSP00000505006.1:p.Arg199Gln
ENST00000680500.1:c.599G>A	ENSP00000506438.1:p.Arg200Gln
ENST00000680574.1:c.599G>A	ENSP00000505356.1:p.Arg200Gln
ENST00000303372.6:c.599G>A	ENSP00000304941.5:p.Arg200Gln
ENST00000426174.6:c.596G>A	ENSP00000395171.2:p.Arg199Gln
NM_001143850.2:c.596G>A	NP_001137322.1:p.Arg199Gln
NM_024809.4:c.599G>A	NP_079085.2:p.Arg200Gln
XM_005253623.2:c.599G>A	XP_005253680.1:p.Arg200Gln
XM_006719605.2:c.599G>A	XP_006719668.1:p.Arg200Gln
XM_006719605.3:c.599G>A	XP_006719668.1:p.Arg200Gln
XM_017019974.1:c.596G>A	XP_016875463.1:p.Arg199Gln
XM_017019975.1:c.-187G>A	XP_016875464.1:n.-187G>A
NM_024809.5:c.599G>A MANE Select	NP_079085.2:p.Arg200Gln
NM_001143850.3:c.596G>A	NP_001137322.1:p.Arg199Gln