Canonical Allele Identifier: CA10632201

Gene: TCTN2

Linked Data

• ClinVar Variation Id: 307564
• ClinVar RCV Id: RCV000348184 ; RCV000380838 ; RCV000395659 ; RCV001660608
• dbSNP Id: rs12811354
• gnomAD v2: 12-124192415-G-A
• gnomAD v3: 12-123707868-G-A
• gnomAD v4: 12-123707868-G-A
• MyVariant Identifiers: chr12:g.124192415G>A (hg19) ; chr12:g.123707868G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123707868G>A , CM000674.2:g.123707868G>A	GRCh38
NC_000012.11:g.124192415G>A , CM000674.1:g.124192415G>A	GRCh37
NC_000012.10:g.122758368G>A	NCBI36
NG_012743.1:g.551G>A
NG_030442.1:g.41756G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303372.7:c.*155G>A MANE Select	ENSP00000304941.5:n.*155G>A
ENST00000679504.1:c.1982-336G>A	ENSP00000505006.1:n.1982-336G>A
ENST00000680394.1:n.1350G>A
ENST00000680500.1:c.*621G>A	ENSP00000506438.1:n.*621G>A
ENST00000680574.1:c.*155G>A	ENSP00000505356.1:n.*155G>A
ENST00000303372.6:c.*155G>A	ENSP00000304941.5:n.*155G>A
ENST00000426174.6:c.*155G>A	ENSP00000395171.2:n.*155G>A
NM_001143850.2:c.*155G>A	NP_001137322.1:n.*155G>A
NM_024809.4:c.*155G>A	NP_079085.2:n.*155G>A
XM_005253623.2:c.*155G>A	XP_005253680.1:n.*155G>A
XM_011538748.1:c.*155G>A	XP_011537050.1:n.*155G>A
XM_006719605.3:c.*97G>A	XP_006719668.1:n.*97G>A
XM_017019974.1:c.*155G>A	XP_016875463.1:n.*155G>A
XM_017019975.1:c.*155G>A	XP_016875464.1:n.*155G>A
NM_024809.5:c.*155G>A MANE Select	NP_079085.2:n.*155G>A
NM_001143850.3:c.*155G>A	NP_001137322.1:n.*155G>A