Canonical Allele Identifier: CA387155066

Gene: TCTN2

Linked Data

• MyVariant Identifiers: chr12:g.124156107G>C (hg19) ; chr12:g.123671560G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123671560G>C , CM000674.2:g.123671560G>C	GRCh38
NC_000012.11:g.124156107G>C , CM000674.1:g.124156107G>C	GRCh37
NC_000012.10:g.122722060G>C	NCBI36
NG_030442.1:g.5448G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303372.7:c.136G>C MANE Select	ENSP00000304941.5:p.Val46Leu
ENST00000679504.1:c.136G>C	ENSP00000505006.1:p.Val46Leu
ENST00000680500.1:c.136G>C	ENSP00000506438.1:p.Val46Leu
ENST00000680574.1:c.136G>C	ENSP00000505356.1:p.Val46Leu
ENST00000303372.6:c.136G>C	ENSP00000304941.5:p.Val46Leu
ENST00000426174.6:c.136G>C	ENSP00000395171.2:p.Val46Leu
ENST00000541523.1:c.162G>C	ENSP00000437644.1:p.Trp54Cys
NM_001143850.2:c.136G>C	NP_001137322.1:p.Val46Leu
NM_024809.4:c.136G>C	NP_079085.2:p.Val46Leu
XM_005253623.2:c.136G>C	XP_005253680.1:p.Val46Leu
XM_006719605.2:c.136G>C	XP_006719668.1:p.Val46Leu
XM_006719605.3:c.136G>C	XP_006719668.1:p.Val46Leu
XM_017019974.1:c.136G>C	XP_016875463.1:p.Val46Leu
XM_017019975.1:c.-647G>C	XP_016875464.1:n.-647G>C
NM_024809.5:c.136G>C MANE Select	NP_079085.2:p.Val46Leu
NM_001143850.3:c.136G>C	NP_001137322.1:p.Val46Leu