Canonical Allele Identifier: CA453305361

Gene: TTLL2

Linked Data

• dbSNP Id: rs1370360967
• gnomAD v4: 6-167341421-C-T
• MyVariant Identifiers: chr6:g.167754909C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167341421C>T , CM000668.2:g.167341421C>T	GRCh38
NC_000006.11:g.167754909C>T , CM000668.1:g.167754909C>T	GRCh37
NC_000006.10:g.167674899C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000239587.10:c.1521C>T MANE Select	ENSP00000239587.5:p.Ser507=
ENST00000649884.1:c.1302C>T	ENSP00000497040.1:p.Ser434=
ENST00000239587.9:c.1521C>T	ENSP00000239587.5:p.Ser507=
ENST00000515138.1:c.1521C>T	ENSP00000424130.1:p.Ser507=
NM_031949.4:c.1521C>T	NP_114155.4:p.Ser507=
XM_006715572.2:c.1302C>T	XP_006715635.1:p.Ser434=
XM_006715572.4:c.1302C>T	XP_006715635.1:p.Ser434=
NM_031949.5:c.1521C>T MANE Select	NP_114155.4:p.Ser507=