Canonical Allele Identifier: CA4097583
Gene: TTLL2 HGNC NCBI

Linked Data

dbSNP Id: rs374325653
ExAC: 6:167755022 G / A
gnomAD v2: 6-167755022-G-A
gnomAD v3: 6-167341534-G-A
gnomAD v4: 6-167341534-G-A
MyVariant Identifiers: chr6:g.167755022G>A (hg19) chr6:g.167341534G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.167341534G>A , CM000668.2:g.167341534G>A GRCh38
NC_000006.11:g.167755022G>A , CM000668.1:g.167755022G>A GRCh37
NC_000006.10:g.167675012G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000239587.10:c.1634G>A MANE Select ENSP00000239587.5:p.Arg545His
ENST00000649884.1:c.1415G>A ENSP00000497040.1:p.Arg472His
ENST00000239587.9:c.1634G>A ENSP00000239587.5:p.Arg545His
ENST00000515138.1:c.1634G>A ENSP00000424130.1:p.Arg545His
NM_031949.4:c.1634G>A NP_114155.4:p.Arg545His
XM_006715572.2:c.1415G>A XP_006715635.1:p.Arg472His
XM_006715572.4:c.1415G>A XP_006715635.1:p.Arg472His
NM_031949.5:c.1634G>A MANE Select NP_114155.4:p.Arg545His
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