Canonical Allele Identifier: CA4097555
Gene: TTLL2 HGNC NCBI

Linked Data

dbSNP Id: rs747853417
ExAC: 6:167754927 C / T
gnomAD v2: 6-167754927-C-T
gnomAD v3: 6-167341439-C-T
gnomAD v4: 6-167341439-C-T
MyVariant Identifiers: chr6:g.167754927C>T (hg19) chr6:g.167341439C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.167341439C>T , CM000668.2:g.167341439C>T GRCh38
NC_000006.11:g.167754927C>T , CM000668.1:g.167754927C>T GRCh37
NC_000006.10:g.167674917C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000239587.10:c.1539C>T MANE Select ENSP00000239587.5:p.Ser513=
ENST00000649884.1:c.1320C>T ENSP00000497040.1:p.Ser440=
ENST00000239587.9:c.1539C>T ENSP00000239587.5:p.Ser513=
ENST00000515138.1:c.1539C>T ENSP00000424130.1:p.Ser513=
NM_031949.4:c.1539C>T NP_114155.4:p.Ser513=
XM_006715572.2:c.1320C>T XP_006715635.1:p.Ser440=
XM_006715572.4:c.1320C>T XP_006715635.1:p.Ser440=
NM_031949.5:c.1539C>T MANE Select NP_114155.4:p.Ser513=
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