Canonical Allele Identifier: CA366424262
Gene: TTLL2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.167341200A>C , CM000668.2:g.167341200A>C GRCh38
NC_000006.11:g.167754688A>C , CM000668.1:g.167754688A>C GRCh37
NC_000006.10:g.167674678A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000239587.10:c.1300A>C MANE Select ENSP00000239587.5:p.Asn434His
ENST00000649884.1:c.1081A>C ENSP00000497040.1:p.Asn361His
ENST00000239587.9:c.1300A>C ENSP00000239587.5:p.Asn434His
ENST00000515138.1:c.1300A>C ENSP00000424130.1:p.Asn434His
NM_031949.4:c.1300A>C NP_114155.4:p.Asn434His
XM_006715572.2:c.1081A>C XP_006715635.1:p.Asn361His
XM_006715572.4:c.1081A>C XP_006715635.1:p.Asn361His
NM_031949.5:c.1300A>C MANE Select NP_114155.4:p.Asn434His