Canonical Allele Identifier: CA6860779

Gene: TCTN2

Linked Data

• ClinVar Variation Id: 698023
• ClinVar RCV Id: RCV002064511
• dbSNP Id: rs756232884
• ExAC: 12:124156048 G / A
• gnomAD v2: 12-124156048-G-A
• gnomAD v3: 12-123671501-G-A
• gnomAD v4: 12-123671501-G-A
• MyVariant Identifiers: chr12:g.124156048G>A (hg19) ; chr12:g.123671501G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123671501G>A , CM000674.2:g.123671501G>A	GRCh38
NC_000012.11:g.124156048G>A , CM000674.1:g.124156048G>A	GRCh37
NC_000012.10:g.122722001G>A	NCBI36
NG_030442.1:g.5389G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303372.7:c.83-6G>A MANE Select	ENSP00000304941.5:n.83-6G>A
ENST00000679504.1:c.83-6G>A	ENSP00000505006.1:n.83-6G>A
ENST00000680500.1:c.83-6G>A	ENSP00000506438.1:n.83-6G>A
ENST00000680574.1:c.83-6G>A	ENSP00000505356.1:n.83-6G>A
ENST00000303372.6:c.83-6G>A	ENSP00000304941.5:n.83-6G>A
ENST00000426174.6:c.83-6G>A	ENSP00000395171.2:n.83-6G>A
ENST00000541523.1:c.109-6G>A	ENSP00000437644.1:n.109-6G>A
NM_001143850.2:c.83-6G>A	NP_001137322.1:n.83-6G>A
NM_024809.4:c.83-6G>A	NP_079085.2:n.83-6G>A
XM_005253623.2:c.83-6G>A	XP_005253680.1:n.83-6G>A
XM_006719605.2:c.83-6G>A	XP_006719668.1:n.83-6G>A
XM_006719605.3:c.83-6G>A	XP_006719668.1:n.83-6G>A
XM_017019974.1:c.83-6G>A	XP_016875463.1:n.83-6G>A
XM_017019975.1:c.-700-6G>A	XP_016875464.1:n.-700-6G>A
NM_024809.5:c.83-6G>A MANE Select	NP_079085.2:n.83-6G>A
NM_001143850.3:c.83-6G>A	NP_001137322.1:n.83-6G>A