Canonical Allele Identifier: CA4097491
Gene: TTLL2 HGNC NCBI

Linked Data

dbSNP Id: rs748216967
ExAC: 6:167754589 G / T
gnomAD v2: 6-167754589-G-T
gnomAD v3: 6-167341101-G-T
gnomAD v4: 6-167341101-G-T
MyVariant Identifiers: chr6:g.167754589G>T (hg19) chr6:g.167341101G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.167341101G>T , CM000668.2:g.167341101G>T GRCh38
NC_000006.11:g.167754589G>T , CM000668.1:g.167754589G>T GRCh37
NC_000006.10:g.167674579G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000239587.10:c.1201G>T MANE Select ENSP00000239587.5:p.Val401Leu
ENST00000649884.1:c.982G>T ENSP00000497040.1:p.Val328Leu
ENST00000239587.9:c.1201G>T ENSP00000239587.5:p.Val401Leu
ENST00000515138.1:c.1201G>T ENSP00000424130.1:p.Val401Leu
NM_031949.4:c.1201G>T NP_114155.4:p.Val401Leu
XM_006715572.2:c.982G>T XP_006715635.1:p.Val328Leu
XM_006715572.4:c.982G>T XP_006715635.1:p.Val328Leu
NM_031949.5:c.1201G>T MANE Select NP_114155.4:p.Val401Leu
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