Canonical Allele Identifier: CA387161591

Gene: TCTN2

Linked Data

• dbSNP Id: rs1279040207
• gnomAD v2: 12-124171441-G-A
• gnomAD v4: 12-123686894-G-A
• MyVariant Identifiers: chr12:g.124171441G>A (hg19) ; chr12:g.123686894G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123686894G>A , CM000674.2:g.123686894G>A	GRCh38
NC_000012.11:g.124171441G>A , CM000674.1:g.124171441G>A	GRCh37
NC_000012.10:g.122737394G>A	NCBI36
NG_030442.1:g.20782G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303372.7:c.623G>A MANE Select	ENSP00000304941.5:p.Gly208Glu
ENST00000679504.1:c.620G>A	ENSP00000505006.1:p.Gly207Glu
ENST00000680500.1:c.623G>A	ENSP00000506438.1:p.Gly208Glu
ENST00000680574.1:c.623G>A	ENSP00000505356.1:p.Gly208Glu
ENST00000303372.6:c.623G>A	ENSP00000304941.5:p.Gly208Glu
ENST00000426174.6:c.620G>A	ENSP00000395171.2:p.Gly207Glu
NM_001143850.2:c.620G>A	NP_001137322.1:p.Gly207Glu
NM_024809.4:c.623G>A	NP_079085.2:p.Gly208Glu
XM_005253623.2:c.623G>A	XP_005253680.1:p.Gly208Glu
XM_006719605.2:c.623G>A	XP_006719668.1:p.Gly208Glu
XM_006719605.3:c.623G>A	XP_006719668.1:p.Gly208Glu
XM_017019974.1:c.620G>A	XP_016875463.1:p.Gly207Glu
XM_017019975.1:c.-163G>A	XP_016875464.1:n.-163G>A
NM_024809.5:c.623G>A MANE Select	NP_079085.2:p.Gly208Glu
NM_001143850.3:c.620G>A	NP_001137322.1:p.Gly207Glu