Canonical Allele Identifier: CA150960

Gene: TCTN2

Linked Data

• ClinVar Variation Id: 126286
• ClinVar RCV Id: RCV000114228 ; RCV000329652 ; RCV000205050 ; RCV001114401 ; RCV001114402
• dbSNP Id: rs112158562
• ExAC: 12:124192207 T / C
• gnomAD v2: 12-124192207-T-C
• gnomAD v3: 12-123707660-T-C
• gnomAD v4: 12-123707660-T-C
• MyVariant Identifiers: chr12:g.124192207T>C (hg19) ; chr12:g.123707660T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123707660T>C , CM000674.2:g.123707660T>C	GRCh38
NC_000012.11:g.124192207T>C , CM000674.1:g.124192207T>C	GRCh37
NC_000012.10:g.122758160T>C	NCBI36
NG_012743.1:g.343T>C
NG_030442.1:g.41548T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303372.7:c.2041T>C MANE Select	ENSP00000304941.5:p.Leu681=
ENST00000679504.1:c.1982-544T>C	ENSP00000505006.1:n.1982-544T>C
ENST00000680394.1:n.1142T>C
ENST00000680500.1:c.*413T>C	ENSP00000506438.1:n.*413T>C
ENST00000680574.1:c.1906T>C	ENSP00000505356.1:p.Leu636=
ENST00000303372.6:c.2041T>C	ENSP00000304941.5:p.Leu681=
ENST00000426174.6:c.2038T>C	ENSP00000395171.2:p.Leu680=
NM_001143850.2:c.2038T>C	NP_001137322.1:p.Leu680=
NM_024809.4:c.2041T>C	NP_079085.2:p.Leu681=
XM_005253623.2:c.1906T>C	XP_005253680.1:p.Leu636=
XM_006719605.2:c.1985-107T>C	XP_006719668.1:n.1985-107T>C
XM_011538748.1:c.1129T>C	XP_011537050.1:p.Leu377=
XM_006719605.3:c.1985-107T>C	XP_006719668.1:n.1985-107T>C
XM_017019974.1:c.1903T>C	XP_016875463.1:p.Leu635=
XM_017019975.1:c.1129T>C	XP_016875464.1:p.Leu377=
NM_024809.5:c.2041T>C MANE Select	NP_079085.2:p.Leu681=
NM_001143850.3:c.2038T>C	NP_001137322.1:p.Leu680=