Canonical Allele Identifier: CA4097551
Gene: TTLL2 HGNC NCBI

Linked Data

dbSNP Id: rs781295806
ExAC: 6:167754906 A / C
gnomAD v2: 6-167754906-A-C
gnomAD v4: 6-167341418-A-C
MyVariant Identifiers: chr6:g.167754906A>C (hg19) chr6:g.167341418A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.167341418A>C , CM000668.2:g.167341418A>C GRCh38
NC_000006.11:g.167754906A>C , CM000668.1:g.167754906A>C GRCh37
NC_000006.10:g.167674896A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000239587.10:c.1518A>C MANE Select ENSP00000239587.5:p.Gln506His
ENST00000649884.1:c.1299A>C ENSP00000497040.1:p.Gln433His
ENST00000239587.9:c.1518A>C ENSP00000239587.5:p.Gln506His
ENST00000515138.1:c.1518A>C ENSP00000424130.1:p.Gln506His
NM_031949.4:c.1518A>C NP_114155.4:p.Gln506His
XM_006715572.2:c.1299A>C XP_006715635.1:p.Gln433His
XM_006715572.4:c.1299A>C XP_006715635.1:p.Gln433His
NM_031949.5:c.1518A>C MANE Select NP_114155.4:p.Gln506His
Search 100 bp 5'
Search 100 bp 3'