Canonical Allele Identifier: CA6861006

Gene: TCTN2

Linked Data

• ClinVar Variation Id: 307553
• ClinVar RCV Id: RCV000315177 ; RCV000367468 ; RCV000636951 ; RCV004021534
• dbSNP Id: rs151318349
• ExAC: 12:124172609 A / G
• gnomAD v2: 12-124172609-A-G
• gnomAD v3: 12-123688062-A-G
• gnomAD v4: 12-123688062-A-G
• MyVariant Identifiers: chr12:g.124172609A>G (hg19) ; chr12:g.123688062A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123688062A>G , CM000674.2:g.123688062A>G	GRCh38
NC_000012.11:g.124172609A>G , CM000674.1:g.124172609A>G	GRCh37
NC_000012.10:g.122738562A>G	NCBI36
NG_030442.1:g.21950A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303372.7:c.776A>G MANE Select	ENSP00000304941.5:p.Gln259Arg
ENST00000679504.1:c.773A>G	ENSP00000505006.1:p.Gln258Arg
ENST00000680500.1:c.776A>G	ENSP00000506438.1:p.Gln259Arg
ENST00000680574.1:c.776A>G	ENSP00000505356.1:p.Gln259Arg
ENST00000303372.6:c.776A>G	ENSP00000304941.5:p.Gln259Arg
ENST00000426174.6:c.773A>G	ENSP00000395171.2:p.Gln258Arg
NM_001143850.2:c.773A>G	NP_001137322.1:p.Gln258Arg
NM_024809.4:c.776A>G	NP_079085.2:p.Gln259Arg
XM_005253623.2:c.776A>G	XP_005253680.1:p.Gln259Arg
XM_006719605.2:c.776A>G	XP_006719668.1:p.Gln259Arg
XM_011538748.1:c.-22+1027A>G	XP_011537050.1:n.-22+1027A>G
XM_006719605.3:c.776A>G	XP_006719668.1:p.Gln259Arg
XM_017019974.1:c.773A>G	XP_016875463.1:p.Gln258Arg
XM_017019975.1:c.-22+1027A>G	XP_016875464.1:n.-22+1027A>G
NM_024809.5:c.776A>G MANE Select	NP_079085.2:p.Gln259Arg
NM_001143850.3:c.773A>G	NP_001137322.1:p.Gln258Arg