Canonical Allele Identifier: CA366425163
Gene: TTLL2 HGNC NCBI

Linked Data

gnomAD v4: 6-167341620-T-A
MyVariant Identifiers: chr6:g.167755108T>A (hg19) chr6:g.167341620T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.167341620T>A , CM000668.2:g.167341620T>A GRCh38
NC_000006.11:g.167755108T>A , CM000668.1:g.167755108T>A GRCh37
NC_000006.10:g.167675098T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000239587.10:c.1720T>A MANE Select ENSP00000239587.5:p.Leu574Ile
ENST00000649884.1:c.1501T>A ENSP00000497040.1:p.Leu501Ile
ENST00000239587.9:c.1720T>A ENSP00000239587.5:p.Leu574Ile
ENST00000515138.1:c.1720T>A ENSP00000424130.1:p.Leu574Ile
NM_031949.4:c.1720T>A NP_114155.4:p.Leu574Ile
XM_006715572.2:c.1501T>A XP_006715635.1:p.Leu501Ile
XM_006715572.4:c.1501T>A XP_006715635.1:p.Leu501Ile
NM_031949.5:c.1720T>A MANE Select NP_114155.4:p.Leu574Ile
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