Canonical Allele Identifier: CA210299

Gene: TCTN2

Linked Data

• ClinVar Variation Id: 217696
• ClinVar RCV Id: RCV000201680 ; RCV000310999 ; RCV000778106
• dbSNP Id: rs187433682
• ExAC: 12:124179406 G / A
• gnomAD v2: 12-124179406-G-A
• gnomAD v3: 12-123694859-G-A
• gnomAD v4: 12-123694859-G-A
• MyVariant Identifiers: chr12:g.124179406G>A (hg19) ; chr12:g.123694859G>A (hg38)
• PubMed: PMID:22331178 ; PMID:26092869

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123694859G>A , CM000674.2:g.123694859G>A	GRCh38
NC_000012.11:g.124179406G>A , CM000674.1:g.124179406G>A	GRCh37
NC_000012.10:g.122745359G>A	NCBI36
NG_030442.1:g.28747G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303372.7:c.1117G>A MANE Select	ENSP00000304941.5:p.Gly373Arg
ENST00000679504.1:c.1114G>A	ENSP00000505006.1:p.Gly372Arg
ENST00000680500.1:c.1117G>A	ENSP00000506438.1:p.Gly373Arg
ENST00000680574.1:c.1100-361G>A	ENSP00000505356.1:n.1100-361G>A
ENST00000303372.6:c.1117G>A	ENSP00000304941.5:p.Gly373Arg
ENST00000426174.6:c.1114G>A	ENSP00000395171.2:p.Gly372Arg
NM_001143850.2:c.1114G>A	NP_001137322.1:p.Gly372Arg
NM_024809.4:c.1117G>A	NP_079085.2:p.Gly373Arg
XM_005253623.2:c.1100-361G>A	XP_005253680.1:n.1100-361G>A
XM_006719605.2:c.1117G>A	XP_006719668.1:p.Gly373Arg
XM_011538748.1:c.205G>A	XP_011537050.1:p.Gly69Arg
XM_006719605.3:c.1117G>A	XP_006719668.1:p.Gly373Arg
XM_017019974.1:c.1097-361G>A	XP_016875463.1:n.1097-361G>A
XM_017019975.1:c.205G>A	XP_016875464.1:p.Gly69Arg
NM_024809.5:c.1117G>A MANE Select	NP_079085.2:p.Gly373Arg
NM_001143850.3:c.1114G>A	NP_001137322.1:p.Gly372Arg