Canonical Allele Identifier: CA10636707

Gene: TCTN2

Linked Data

• ClinVar Variation Id: 307567
• ClinVar RCV Id: RCV000261726 ; RCV000288832 ; RCV000358743 ; RCV001527870
• dbSNP Id: rs56918215
• gnomAD v2: 12-124192587-T-TCTCA
• gnomAD v3: 12-123708040-T-TCTCA
• gnomAD v4: 12-123708040-T-TCTCA
• MyVariant Identifiers: chr12:g.124192590_124192591insACTC (hg19) ; chr12:g.124192587_124192588insCTCA (hg19) ; chr12:g.123708043_123708044insACTC (hg38) ; chr12:g.123708040_123708041insCTCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123708043_123708044insACTC , CM000674.2:g.123708043_123708044insACTC	GRCh38
NC_000012.11:g.124192590_124192591insACTC , CM000674.1:g.124192590_124192591insACTC	GRCh37
NC_000012.10:g.122758543_122758544insACTC	NCBI36
NG_012743.1:g.726_727insACTC
NG_030442.1:g.41931_41932insACTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303372.7:c.*330_*331insACTC MANE Select	ENSP00000304941.5:n.*330_*331insACTC
ENST00000679504.1:c.1982-161_1982-160insACTC	ENSP00000505006.1:n.1982-161_1982-160insACTC
ENST00000303372.6:c.*330_*331insACTC	ENSP00000304941.5:n.*330_*331insACTC
NM_001143850.2:c.*330_*331insACTC	NP_001137322.1:n.*330_*331insACTC
NM_024809.4:c.*330_*331insACTC	NP_079085.2:n.*330_*331insACTC
XM_005253623.2:c.*330_*331insACTC	XP_005253680.1:n.*330_*331insACTC
XM_011538748.1:c.*330_*331insACTC	XP_011537050.1:n.*330_*331insACTC
XM_017019974.1:c.*330_*331insACTC	XP_016875463.1:n.*330_*331insACTC
XM_017019975.1:c.*330_*331insACTC	XP_016875464.1:n.*330_*331insACTC
NM_024809.5:c.*330_*331insACTC MANE Select	NP_079085.2:n.*330_*331insACTC
NM_001143850.3:c.*330_*331insACTC	NP_001137322.1:n.*330_*331insACTC