Canonical Allele Identifier: CA366424067
Gene: TTLL2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.167341112G>C , CM000668.2:g.167341112G>C GRCh38
NC_000006.11:g.167754600G>C , CM000668.1:g.167754600G>C GRCh37
NC_000006.10:g.167674590G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000239587.10:c.1212G>C MANE Select ENSP00000239587.5:p.Lys404Asn
ENST00000649884.1:c.993G>C ENSP00000497040.1:p.Lys331Asn
ENST00000239587.9:c.1212G>C ENSP00000239587.5:p.Lys404Asn
ENST00000515138.1:c.1212G>C ENSP00000424130.1:p.Lys404Asn
NM_031949.4:c.1212G>C NP_114155.4:p.Lys404Asn
XM_006715572.2:c.993G>C XP_006715635.1:p.Lys331Asn
XM_006715572.4:c.993G>C XP_006715635.1:p.Lys331Asn
NM_031949.5:c.1212G>C MANE Select NP_114155.4:p.Lys404Asn