Canonical Allele Identifier: CA366423988
Gene: TTLL2 HGNC NCBI

Linked Data

dbSNP Id: rs373611883
gnomAD v2: 6-167754563-C-G
gnomAD v3: 6-167341075-C-G
gnomAD v4: 6-167341075-C-G
MyVariant Identifiers: chr6:g.167754563C>G (hg19) chr6:g.167341075C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.167341075C>G , CM000668.2:g.167341075C>G GRCh38
NC_000006.11:g.167754563C>G , CM000668.1:g.167754563C>G GRCh37
NC_000006.10:g.167674553C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000239587.10:c.1175C>G MANE Select ENSP00000239587.5:p.Ala392Gly
ENST00000649884.1:c.956C>G ENSP00000497040.1:p.Ala319Gly
ENST00000239587.9:c.1175C>G ENSP00000239587.5:p.Ala392Gly
ENST00000515138.1:c.1175C>G ENSP00000424130.1:p.Ala392Gly
NM_031949.4:c.1175C>G NP_114155.4:p.Ala392Gly
XM_006715572.2:c.956C>G XP_006715635.1:p.Ala319Gly
XM_006715572.4:c.956C>G XP_006715635.1:p.Ala319Gly
NM_031949.5:c.1175C>G MANE Select NP_114155.4:p.Ala392Gly
Search 100 bp 5'
Search 100 bp 3'