Canonical Allele Identifier: CA453305439
Gene: TTLL2 HGNC NCBI

Linked Data

gnomAD v4: 6-167341490-G-C
MyVariant Identifiers: chr6:g.167754978G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.167341490G>C , CM000668.2:g.167341490G>C GRCh38
NC_000006.11:g.167754978G>C , CM000668.1:g.167754978G>C GRCh37
NC_000006.10:g.167674968G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000239587.10:c.1590G>C MANE Select ENSP00000239587.5:p.Ser530=
ENST00000649884.1:c.1371G>C ENSP00000497040.1:p.Ser457=
ENST00000239587.9:c.1590G>C ENSP00000239587.5:p.Ser530=
ENST00000515138.1:c.1590G>C ENSP00000424130.1:p.Ser530=
NM_031949.4:c.1590G>C NP_114155.4:p.Ser530=
XM_006715572.2:c.1371G>C XP_006715635.1:p.Ser457=
XM_006715572.4:c.1371G>C XP_006715635.1:p.Ser457=
NM_031949.5:c.1590G>C MANE Select NP_114155.4:p.Ser530=
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