Canonical Allele Identifier: CA387161356

Gene: TCTN2

Linked Data

• dbSNP Id: rs1955973606
• gnomAD v4: 12-123686855-C-T
• MyVariant Identifiers: chr12:g.124171402C>T (hg19) ; chr12:g.123686855C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123686855C>T , CM000674.2:g.123686855C>T	GRCh38
NC_000012.11:g.124171402C>T , CM000674.1:g.124171402C>T	GRCh37
NC_000012.10:g.122737355C>T	NCBI36
NG_030442.1:g.20743C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303372.7:c.584C>T MANE Select	ENSP00000304941.5:p.Thr195Ile
ENST00000679504.1:c.581C>T	ENSP00000505006.1:p.Thr194Ile
ENST00000680500.1:c.584C>T	ENSP00000506438.1:p.Thr195Ile
ENST00000680574.1:c.584C>T	ENSP00000505356.1:p.Thr195Ile
ENST00000303372.6:c.584C>T	ENSP00000304941.5:p.Thr195Ile
ENST00000426174.6:c.581C>T	ENSP00000395171.2:p.Thr194Ile
NM_001143850.2:c.581C>T	NP_001137322.1:p.Thr194Ile
NM_024809.4:c.584C>T	NP_079085.2:p.Thr195Ile
XM_005253623.2:c.584C>T	XP_005253680.1:p.Thr195Ile
XM_006719605.2:c.584C>T	XP_006719668.1:p.Thr195Ile
XM_006719605.3:c.584C>T	XP_006719668.1:p.Thr195Ile
XM_017019974.1:c.581C>T	XP_016875463.1:p.Thr194Ile
XM_017019975.1:c.-202C>T	XP_016875464.1:n.-202C>T
NM_024809.5:c.584C>T MANE Select	NP_079085.2:p.Thr195Ile
NM_001143850.3:c.581C>T	NP_001137322.1:p.Thr194Ile