Canonical Allele Identifier: CA366423964
Gene: TTLL2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.167341065T>A , CM000668.2:g.167341065T>A GRCh38
NC_000006.11:g.167754553T>A , CM000668.1:g.167754553T>A GRCh37
NC_000006.10:g.167674543T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000239587.10:c.1165T>A MANE Select ENSP00000239587.5:p.Tyr389Asn
ENST00000649884.1:c.946T>A ENSP00000497040.1:p.Tyr316Asn
ENST00000239587.9:c.1165T>A ENSP00000239587.5:p.Tyr389Asn
ENST00000515138.1:c.1165T>A ENSP00000424130.1:p.Tyr389Asn
NM_031949.4:c.1165T>A NP_114155.4:p.Tyr389Asn
XM_006715572.2:c.946T>A XP_006715635.1:p.Tyr316Asn
XM_006715572.4:c.946T>A XP_006715635.1:p.Tyr316Asn
NM_031949.5:c.1165T>A MANE Select NP_114155.4:p.Tyr389Asn