Canonical Allele Identifier: CA608506990

Gene: TCTN2

Linked Data

• dbSNP Id: rs1218556125
• gnomAD v2: 12-124156028-CCTT-C
• gnomAD v4: 12-123671481-CCTT-C
• MyVariant Identifiers: chr12:g.124156029_124156031del (hg19) ; chr12:g.123671482_123671484del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123671482_123671484del , CM000674.2:g.123671482_123671484del	GRCh38
NC_000012.11:g.124156029_124156031del , CM000674.1:g.124156029_124156031del	GRCh37
NC_000012.10:g.122721982_122721984del	NCBI36
NG_030442.1:g.5370_5372del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303372.7:c.83-25_83-23del MANE Select	ENSP00000304941.5:n.83-25_83-23del
ENST00000679504.1:c.83-25_83-23del	ENSP00000505006.1:n.83-25_83-23del
ENST00000680500.1:c.83-25_83-23del	ENSP00000506438.1:n.83-25_83-23del
ENST00000680574.1:c.83-25_83-23del	ENSP00000505356.1:n.83-25_83-23del
ENST00000303372.6:c.83-25_83-23del	ENSP00000304941.5:n.83-25_83-23del
ENST00000426174.6:c.83-25_83-23del	ENSP00000395171.2:n.83-25_83-23del
ENST00000541523.1:c.109-25_109-23del	ENSP00000437644.1:n.109-25_109-23del
NM_001143850.2:c.83-25_83-23del	NP_001137322.1:n.83-25_83-23del
NM_024809.4:c.83-25_83-23del	NP_079085.2:n.83-25_83-23del
XM_005253623.2:c.83-25_83-23del	XP_005253680.1:n.83-25_83-23del
XM_006719605.2:c.83-25_83-23del	XP_006719668.1:n.83-25_83-23del
XM_006719605.3:c.83-25_83-23del	XP_006719668.1:n.83-25_83-23del
XM_017019974.1:c.83-25_83-23del	XP_016875463.1:n.83-25_83-23del
XM_017019975.1:c.-700-25_-700-23del	XP_016875464.1:n.-700-25_-700-23del
NM_024809.5:c.83-25_83-23del MANE Select	NP_079085.2:n.83-25_83-23del
NM_001143850.3:c.83-25_83-23del	NP_001137322.1:n.83-25_83-23del