Canonical Allele Identifier: CA4097476
Gene: TTLL2 HGNC NCBI

Linked Data

dbSNP Id: rs142598770
ExAC: 6:167754514 A / G
gnomAD v2: 6-167754514-A-G
gnomAD v3: 6-167341026-A-G
gnomAD v4: 6-167341026-A-G
MyVariant Identifiers: chr6:g.167754514A>G (hg19) chr6:g.167341026A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.167341026A>G , CM000668.2:g.167341026A>G GRCh38
NC_000006.11:g.167754514A>G , CM000668.1:g.167754514A>G GRCh37
NC_000006.10:g.167674504A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000239587.10:c.1126A>G MANE Select ENSP00000239587.5:p.Ile376Val
ENST00000649884.1:c.907A>G ENSP00000497040.1:p.Ile303Val
ENST00000239587.9:c.1126A>G ENSP00000239587.5:p.Ile376Val
ENST00000515138.1:c.1126A>G ENSP00000424130.1:p.Ile376Val
NM_031949.4:c.1126A>G NP_114155.4:p.Ile376Val
XM_006715572.2:c.907A>G XP_006715635.1:p.Ile303Val
XM_006715572.4:c.907A>G XP_006715635.1:p.Ile303Val
NM_031949.5:c.1126A>G MANE Select NP_114155.4:p.Ile376Val
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