Canonical Allele Identifier: CA4097483
Gene: TTLL2 HGNC NCBI

Linked Data

dbSNP Id: rs780860560
ExAC: 6:167754547 G / A
gnomAD v2: 6-167754547-G-A
gnomAD v3: 6-167341059-G-A
gnomAD v4: 6-167341059-G-A
MyVariant Identifiers: chr6:g.167754547G>A (hg19) chr6:g.167341059G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.167341059G>A , CM000668.2:g.167341059G>A GRCh38
NC_000006.11:g.167754547G>A , CM000668.1:g.167754547G>A GRCh37
NC_000006.10:g.167674537G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000239587.10:c.1159G>A MANE Select ENSP00000239587.5:p.Val387Ile
ENST00000649884.1:c.940G>A ENSP00000497040.1:p.Val314Ile
ENST00000239587.9:c.1159G>A ENSP00000239587.5:p.Val387Ile
ENST00000515138.1:c.1159G>A ENSP00000424130.1:p.Val387Ile
NM_031949.4:c.1159G>A NP_114155.4:p.Val387Ile
XM_006715572.2:c.940G>A XP_006715635.1:p.Val314Ile
XM_006715572.4:c.940G>A XP_006715635.1:p.Val314Ile
NM_031949.5:c.1159G>A MANE Select NP_114155.4:p.Val387Ile
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