Canonical Allele Identifier: CA151970548
Gene: TTLL2 HGNC NCBI

Linked Data

dbSNP Id: rs953166663
gnomAD v2: 6-167754986-G-A
gnomAD v3: 6-167341498-G-A
gnomAD v4: 6-167341498-G-A
MyVariant Identifiers: chr6:g.167754986G>A (hg19) chr6:g.167341498G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.167341498G>A , CM000668.2:g.167341498G>A GRCh38
NC_000006.11:g.167754986G>A , CM000668.1:g.167754986G>A GRCh37
NC_000006.10:g.167674976G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000239587.10:c.1598G>A MANE Select ENSP00000239587.5:p.Cys533Tyr
ENST00000649884.1:c.1379G>A ENSP00000497040.1:p.Cys460Tyr
ENST00000239587.9:c.1598G>A ENSP00000239587.5:p.Cys533Tyr
ENST00000515138.1:c.1598G>A ENSP00000424130.1:p.Cys533Tyr
NM_031949.4:c.1598G>A NP_114155.4:p.Cys533Tyr
XM_006715572.2:c.1379G>A XP_006715635.1:p.Cys460Tyr
XM_006715572.4:c.1379G>A XP_006715635.1:p.Cys460Tyr
NM_031949.5:c.1598G>A MANE Select NP_114155.4:p.Cys533Tyr
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