Canonical Allele Identifier: CA4097485
Gene: TTLL2 HGNC NCBI

Linked Data

dbSNP Id: rs756528392

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.167341069G>T , CM000668.2:g.167341069G>T GRCh38
NC_000006.11:g.167754557G>T , CM000668.1:g.167754557G>T GRCh37
NC_000006.10:g.167674547G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000239587.10:c.1169G>T MANE Select ENSP00000239587.5:p.Ser390Ile
ENST00000649884.1:c.950G>T ENSP00000497040.1:p.Ser317Ile
ENST00000239587.9:c.1169G>T ENSP00000239587.5:p.Ser390Ile
ENST00000515138.1:c.1169G>T ENSP00000424130.1:p.Ser390Ile
NM_031949.4:c.1169G>T NP_114155.4:p.Ser390Ile
XM_006715572.2:c.950G>T XP_006715635.1:p.Ser317Ile
XM_006715572.4:c.950G>T XP_006715635.1:p.Ser317Ile
NM_031949.5:c.1169G>T MANE Select NP_114155.4:p.Ser390Ile