Canonical Allele Identifier: CA245195141

Gene: TCTN2

Linked Data

• dbSNP Id: rs1057064532
• gnomAD v3: 12-123686487-CAATT-C
• gnomAD v4: 12-123686487-CAATT-C
• MyVariant Identifiers: chr12:g.124171035_124171038del (hg19) ; chr12:g.123686488_123686491del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123686490_123686493del , CM000674.2:g.123686490_123686493del	GRCh38
NC_000012.11:g.124171037_124171040del , CM000674.1:g.124171037_124171040del	GRCh37
NC_000012.10:g.122736990_122736993del	NCBI36
NG_030442.1:g.20378_20381del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303372.7:c.565-346_565-343del MANE Select	ENSP00000304941.5:n.565-346_565-343del
ENST00000679504.1:c.562-346_562-343del	ENSP00000505006.1:n.562-346_562-343del
ENST00000680500.1:c.565-346_565-343del	ENSP00000506438.1:n.565-346_565-343del
ENST00000680574.1:c.565-346_565-343del	ENSP00000505356.1:n.565-346_565-343del
ENST00000303372.6:c.565-346_565-343del	ENSP00000304941.5:n.565-346_565-343del
ENST00000426174.6:c.562-346_562-343del	ENSP00000395171.2:n.562-346_562-343del
NM_001143850.2:c.562-346_562-343del	NP_001137322.1:n.562-346_562-343del
NM_024809.4:c.565-346_565-343del	NP_079085.2:n.565-346_565-343del
XM_005253623.2:c.565-346_565-343del	XP_005253680.1:n.565-346_565-343del
XM_006719605.2:c.565-346_565-343del	XP_006719668.1:n.565-346_565-343del
XM_006719605.3:c.565-346_565-343del	XP_006719668.1:n.565-346_565-343del
XM_017019974.1:c.562-346_562-343del	XP_016875463.1:n.562-346_562-343del
XM_017019975.1:c.-221-346_-221-343del	XP_016875464.1:n.-221-346_-221-343del
NM_024809.5:c.565-346_565-343del MANE Select	NP_079085.2:n.565-346_565-343del
NM_001143850.3:c.562-346_562-343del	NP_001137322.1:n.562-346_562-343del