Canonical Allele Identifier: CA366423956
Gene: TTLL2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.167754548T>A (hg19) chr6:g.167341060T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.167341060T>A , CM000668.2:g.167341060T>A GRCh38
NC_000006.11:g.167754548T>A , CM000668.1:g.167754548T>A GRCh37
NC_000006.10:g.167674538T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000239587.10:c.1160T>A MANE Select ENSP00000239587.5:p.Val387Asp
ENST00000649884.1:c.941T>A ENSP00000497040.1:p.Val314Asp
ENST00000239587.9:c.1160T>A ENSP00000239587.5:p.Val387Asp
ENST00000515138.1:c.1160T>A ENSP00000424130.1:p.Val387Asp
NM_031949.4:c.1160T>A NP_114155.4:p.Val387Asp
XM_006715572.2:c.941T>A XP_006715635.1:p.Val314Asp
XM_006715572.4:c.941T>A XP_006715635.1:p.Val314Asp
NM_031949.5:c.1160T>A MANE Select NP_114155.4:p.Val387Asp
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