Canonical Allele Identifier: CA387161544

Gene: TCTN2

Linked Data

• MyVariant Identifiers: chr12:g.124171434G>C (hg19) ; chr12:g.123686887G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123686887G>C , CM000674.2:g.123686887G>C	GRCh38
NC_000012.11:g.124171434G>C , CM000674.1:g.124171434G>C	GRCh37
NC_000012.10:g.122737387G>C	NCBI36
NG_030442.1:g.20775G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303372.7:c.616G>C MANE Select	ENSP00000304941.5:p.Val206Leu
ENST00000679504.1:c.613G>C	ENSP00000505006.1:p.Val205Leu
ENST00000680500.1:c.616G>C	ENSP00000506438.1:p.Val206Leu
ENST00000680574.1:c.616G>C	ENSP00000505356.1:p.Val206Leu
ENST00000303372.6:c.616G>C	ENSP00000304941.5:p.Val206Leu
ENST00000426174.6:c.613G>C	ENSP00000395171.2:p.Val205Leu
NM_001143850.2:c.613G>C	NP_001137322.1:p.Val205Leu
NM_024809.4:c.616G>C	NP_079085.2:p.Val206Leu
XM_005253623.2:c.616G>C	XP_005253680.1:p.Val206Leu
XM_006719605.2:c.616G>C	XP_006719668.1:p.Val206Leu
XM_006719605.3:c.616G>C	XP_006719668.1:p.Val206Leu
XM_017019974.1:c.613G>C	XP_016875463.1:p.Val205Leu
XM_017019975.1:c.-170G>C	XP_016875464.1:n.-170G>C
NM_024809.5:c.616G>C MANE Select	NP_079085.2:p.Val206Leu
NM_001143850.3:c.613G>C	NP_001137322.1:p.Val205Leu