Canonical Allele Identifier: CA4097587
Gene: TTLL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 778926
ClinVar RCV Id: RCV000959660
dbSNP Id: rs34931196
ExAC: 6:167755063 G / A
gnomAD v2: 6-167755063-G-A
gnomAD v3: 6-167341575-G-A
gnomAD v4: 6-167341575-G-A
MyVariant Identifiers: chr6:g.167755063G>A (hg19) chr6:g.167341575G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.167341575G>A , CM000668.2:g.167341575G>A GRCh38
NC_000006.11:g.167755063G>A , CM000668.1:g.167755063G>A GRCh37
NC_000006.10:g.167675053G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000239587.10:c.1675G>A MANE Select ENSP00000239587.5:p.Val559Ile
ENST00000649884.1:c.1456G>A ENSP00000497040.1:p.Val486Ile
ENST00000239587.9:c.1675G>A ENSP00000239587.5:p.Val559Ile
ENST00000515138.1:c.1675G>A ENSP00000424130.1:p.Val559Ile
NM_031949.4:c.1675G>A NP_114155.4:p.Val559Ile
XM_006715572.2:c.1456G>A XP_006715635.1:p.Val486Ile
XM_006715572.4:c.1456G>A XP_006715635.1:p.Val486Ile
NM_031949.5:c.1675G>A MANE Select NP_114155.4:p.Val559Ile
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