Canonical Allele Identifier: CA4097582
Gene: TTLL2 HGNC NCBI

Linked Data

dbSNP Id: rs202093642
ExAC: 6:167755021 C / A
gnomAD v2: 6-167755021-C-A
gnomAD v4: 6-167341533-C-A
MyVariant Identifiers: chr6:g.167755021C>A (hg19) chr6:g.167341533C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.167341533C>A , CM000668.2:g.167341533C>A GRCh38
NC_000006.11:g.167755021C>A , CM000668.1:g.167755021C>A GRCh37
NC_000006.10:g.167675011C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000239587.10:c.1633C>A MANE Select ENSP00000239587.5:p.Arg545Ser
ENST00000649884.1:c.1414C>A ENSP00000497040.1:p.Arg472Ser
ENST00000239587.9:c.1633C>A ENSP00000239587.5:p.Arg545Ser
ENST00000515138.1:c.1633C>A ENSP00000424130.1:p.Arg545Ser
NM_031949.4:c.1633C>A NP_114155.4:p.Arg545Ser
XM_006715572.2:c.1414C>A XP_006715635.1:p.Arg472Ser
XM_006715572.4:c.1414C>A XP_006715635.1:p.Arg472Ser
NM_031949.5:c.1633C>A MANE Select NP_114155.4:p.Arg545Ser
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