Canonical Allele Identifier: CA366424964
Gene: TTLL2 HGNC NCBI

Linked Data

dbSNP Id: rs1779098144
gnomAD v3: 6-167341525-T-C
gnomAD v4: 6-167341525-T-C
MyVariant Identifiers: chr6:g.167755013T>C (hg19) chr6:g.167341525T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.167341525T>C , CM000668.2:g.167341525T>C GRCh38
NC_000006.11:g.167755013T>C , CM000668.1:g.167755013T>C GRCh37
NC_000006.10:g.167675003T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000239587.10:c.1625T>C MANE Select ENSP00000239587.5:p.Leu542Pro
ENST00000649884.1:c.1406T>C ENSP00000497040.1:p.Leu469Pro
ENST00000239587.9:c.1625T>C ENSP00000239587.5:p.Leu542Pro
ENST00000515138.1:c.1625T>C ENSP00000424130.1:p.Leu542Pro
NM_031949.4:c.1625T>C NP_114155.4:p.Leu542Pro
XM_006715572.2:c.1406T>C XP_006715635.1:p.Leu469Pro
XM_006715572.4:c.1406T>C XP_006715635.1:p.Leu469Pro
NM_031949.5:c.1625T>C MANE Select NP_114155.4:p.Leu542Pro
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