Canonical Allele Identifier: CA608507027

Gene: TCTN2

Linked Data

• dbSNP Id: rs1397625623
• gnomAD v2: 12-124171250-TGAGA-T
• gnomAD v3: 12-123686703-TGAGA-T
• gnomAD v4: 12-123686703-TGAGA-T
• MyVariant Identifiers: chr12:g.124171251_124171254del (hg19) ; chr12:g.123686704_123686707del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123686704_123686707del , CM000674.2:g.123686704_123686707del	GRCh38
NC_000012.11:g.124171251_124171254del , CM000674.1:g.124171251_124171254del	GRCh37
NC_000012.10:g.122737204_122737207del	NCBI36
NG_030442.1:g.20592_20595del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303372.7:c.565-132_565-129del MANE Select	ENSP00000304941.5:n.565-132_565-129del
ENST00000679504.1:c.562-132_562-129del	ENSP00000505006.1:n.562-132_562-129del
ENST00000680500.1:c.565-132_565-129del	ENSP00000506438.1:n.565-132_565-129del
ENST00000680574.1:c.565-132_565-129del	ENSP00000505356.1:n.565-132_565-129del
ENST00000303372.6:c.565-132_565-129del	ENSP00000304941.5:n.565-132_565-129del
ENST00000426174.6:c.562-132_562-129del	ENSP00000395171.2:n.562-132_562-129del
NM_001143850.2:c.562-132_562-129del	NP_001137322.1:n.562-132_562-129del
NM_024809.4:c.565-132_565-129del	NP_079085.2:n.565-132_565-129del
XM_005253623.2:c.565-132_565-129del	XP_005253680.1:n.565-132_565-129del
XM_006719605.2:c.565-132_565-129del	XP_006719668.1:n.565-132_565-129del
XM_006719605.3:c.565-132_565-129del	XP_006719668.1:n.565-132_565-129del
XM_017019974.1:c.562-132_562-129del	XP_016875463.1:n.562-132_562-129del
XM_017019975.1:c.-221-132_-221-129del	XP_016875464.1:n.-221-132_-221-129del
NM_024809.5:c.565-132_565-129del MANE Select	NP_079085.2:n.565-132_565-129del
NM_001143850.3:c.562-132_562-129del	NP_001137322.1:n.562-132_562-129del