Canonical Allele Identifier: CA387161329

Gene: TCTN2

Linked Data

• gnomAD v4: 12-123686849-A-G
• MyVariant Identifiers: chr12:g.124171396A>G (hg19) ; chr12:g.123686849A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123686849A>G , CM000674.2:g.123686849A>G	GRCh38
NC_000012.11:g.124171396A>G , CM000674.1:g.124171396A>G	GRCh37
NC_000012.10:g.122737349A>G	NCBI36
NG_030442.1:g.20737A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303372.7:c.578A>G MANE Select	ENSP00000304941.5:p.Asn193Ser
ENST00000679504.1:c.575A>G	ENSP00000505006.1:p.Asn192Ser
ENST00000680500.1:c.578A>G	ENSP00000506438.1:p.Asn193Ser
ENST00000680574.1:c.578A>G	ENSP00000505356.1:p.Asn193Ser
ENST00000303372.6:c.578A>G	ENSP00000304941.5:p.Asn193Ser
ENST00000426174.6:c.575A>G	ENSP00000395171.2:p.Asn192Ser
NM_001143850.2:c.575A>G	NP_001137322.1:p.Asn192Ser
NM_024809.4:c.578A>G	NP_079085.2:p.Asn193Ser
XM_005253623.2:c.578A>G	XP_005253680.1:p.Asn193Ser
XM_006719605.2:c.578A>G	XP_006719668.1:p.Asn193Ser
XM_006719605.3:c.578A>G	XP_006719668.1:p.Asn193Ser
XM_017019974.1:c.575A>G	XP_016875463.1:p.Asn192Ser
XM_017019975.1:c.-208A>G	XP_016875464.1:n.-208A>G
NM_024809.5:c.578A>G MANE Select	NP_079085.2:p.Asn193Ser
NM_001143850.3:c.575A>G	NP_001137322.1:p.Asn192Ser