Canonical Allele Identifier: CA4097594
Gene: TTLL2 HGNC NCBI

Linked Data

dbSNP Id: rs746398110
ExAC: 6:167755124 T / C
gnomAD v2: 6-167755124-T-C
gnomAD v3: 6-167341636-T-C
gnomAD v4: 6-167341636-T-C
MyVariant Identifiers: chr6:g.167755124T>C (hg19) chr6:g.167341636T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.167341636T>C , CM000668.2:g.167341636T>C GRCh38
NC_000006.11:g.167755124T>C , CM000668.1:g.167755124T>C GRCh37
NC_000006.10:g.167675114T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000239587.10:c.1736T>C MANE Select ENSP00000239587.5:p.Ile579Thr
ENST00000649884.1:c.1517T>C ENSP00000497040.1:p.Ile506Thr
ENST00000239587.9:c.1736T>C ENSP00000239587.5:p.Ile579Thr
ENST00000515138.1:c.1736T>C ENSP00000424130.1:p.Ile579Thr
NM_031949.4:c.1736T>C NP_114155.4:p.Ile579Thr
XM_006715572.2:c.1517T>C XP_006715635.1:p.Ile506Thr
XM_006715572.4:c.1517T>C XP_006715635.1:p.Ile506Thr
NM_031949.5:c.1736T>C MANE Select NP_114155.4:p.Ile579Thr
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