Canonical Allele Identifier: CA279858

Gene: TCTN2

Linked Data

• ClinVar Variation Id: 218099
• ClinVar RCV Id: RCV000202333
• dbSNP Id: rs863225425
• MyVariant Identifiers: chr12:g.124179766G>A (hg19) ; chr12:g.123695219G>A (hg38)
• PubMed: PMID:21565611 ; PMID:25118024

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123695219G>A , CM000674.2:g.123695219G>A	GRCh38
NC_000012.11:g.124179766G>A , CM000674.1:g.124179766G>A	GRCh37
NC_000012.10:g.122745719G>A	NCBI36
NG_030442.1:g.29107G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303372.7:c.1235-1G>A MANE Select	ENSP00000304941.5:n.1235-1G>A
ENST00000679504.1:c.1232-1G>A	ENSP00000505006.1:n.1232-1G>A
ENST00000680500.1:c.1235-1G>A	ENSP00000506438.1:n.1235-1G>A
ENST00000680574.1:c.1100-1G>A	ENSP00000505356.1:n.1100-1G>A
ENST00000303372.6:c.1235-1G>A	ENSP00000304941.5:n.1235-1G>A
ENST00000426174.6:c.1232-1G>A	ENSP00000395171.2:n.1232-1G>A
ENST00000543998.1:n.180G>A
NM_001143850.2:c.1232-1G>A	NP_001137322.1:n.1232-1G>A
NM_024809.4:c.1235-1G>A	NP_079085.2:n.1235-1G>A
XM_005253623.2:c.1100-1G>A	XP_005253680.1:n.1100-1G>A
XM_006719605.2:c.1235-1G>A	XP_006719668.1:n.1235-1G>A
XM_011538748.1:c.323-1G>A	XP_011537050.1:n.323-1G>A
XM_006719605.3:c.1235-1G>A	XP_006719668.1:n.1235-1G>A
XM_017019974.1:c.1097-1G>A	XP_016875463.1:n.1097-1G>A
XM_017019975.1:c.323-1G>A	XP_016875464.1:n.323-1G>A
NM_024809.5:c.1235-1G>A MANE Select	NP_079085.2:n.1235-1G>A
NM_001143850.3:c.1232-1G>A	NP_001137322.1:n.1232-1G>A