Canonical Allele Identifier: CA387161319

Gene: TCTN2

Linked Data

• gnomAD v4: 12-123686846-C-T
• MyVariant Identifiers: chr12:g.124171393C>T (hg19) ; chr12:g.123686846C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123686846C>T , CM000674.2:g.123686846C>T	GRCh38
NC_000012.11:g.124171393C>T , CM000674.1:g.124171393C>T	GRCh37
NC_000012.10:g.122737346C>T	NCBI36
NG_030442.1:g.20734C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303372.7:c.575C>T MANE Select	ENSP00000304941.5:p.Ser192Leu
ENST00000679504.1:c.572C>T	ENSP00000505006.1:p.Ser191Leu
ENST00000680500.1:c.575C>T	ENSP00000506438.1:p.Ser192Leu
ENST00000680574.1:c.575C>T	ENSP00000505356.1:p.Ser192Leu
ENST00000303372.6:c.575C>T	ENSP00000304941.5:p.Ser192Leu
ENST00000426174.6:c.572C>T	ENSP00000395171.2:p.Ser191Leu
NM_001143850.2:c.572C>T	NP_001137322.1:p.Ser191Leu
NM_024809.4:c.575C>T	NP_079085.2:p.Ser192Leu
XM_005253623.2:c.575C>T	XP_005253680.1:p.Ser192Leu
XM_006719605.2:c.575C>T	XP_006719668.1:p.Ser192Leu
XM_006719605.3:c.575C>T	XP_006719668.1:p.Ser192Leu
XM_017019974.1:c.572C>T	XP_016875463.1:p.Ser191Leu
XM_017019975.1:c.-211C>T	XP_016875464.1:n.-211C>T
NM_024809.5:c.575C>T MANE Select	NP_079085.2:p.Ser192Leu
NM_001143850.3:c.572C>T	NP_001137322.1:p.Ser191Leu