Canonical Allele Identifier: CA4097481
Gene: TTLL2 HGNC NCBI

Linked Data

dbSNP Id: rs150989992
ExAC: 6:167754525 C / T
gnomAD v2: 6-167754525-C-T
gnomAD v3: 6-167341037-C-T
gnomAD v4: 6-167341037-C-T
MyVariant Identifiers: chr6:g.167754525C>T (hg19) chr6:g.167341037C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.167341037C>T , CM000668.2:g.167341037C>T GRCh38
NC_000006.11:g.167754525C>T , CM000668.1:g.167754525C>T GRCh37
NC_000006.10:g.167674515C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000239587.10:c.1137C>T MANE Select ENSP00000239587.5:p.Asn379=
ENST00000649884.1:c.918C>T ENSP00000497040.1:p.Asn306=
ENST00000239587.9:c.1137C>T ENSP00000239587.5:p.Asn379=
ENST00000515138.1:c.1137C>T ENSP00000424130.1:p.Asn379=
NM_031949.4:c.1137C>T NP_114155.4:p.Asn379=
XM_006715572.2:c.918C>T XP_006715635.1:p.Asn306=
XM_006715572.4:c.918C>T XP_006715635.1:p.Asn306=
NM_031949.5:c.1137C>T MANE Select NP_114155.4:p.Asn379=
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