Canonical Allele Identifier: CA4097586
Gene: TTLL2 HGNC NCBI

Linked Data

dbSNP Id: rs750974770
ExAC: 6:167755051 A / T
gnomAD v2: 6-167755051-A-T
gnomAD v4: 6-167341563-A-T
MyVariant Identifiers: chr6:g.167755051A>T (hg19) chr6:g.167341563A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.167341563A>T , CM000668.2:g.167341563A>T GRCh38
NC_000006.11:g.167755051A>T , CM000668.1:g.167755051A>T GRCh37
NC_000006.10:g.167675041A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000239587.10:c.1663A>T MANE Select ENSP00000239587.5:p.Asn555Tyr
ENST00000649884.1:c.1444A>T ENSP00000497040.1:p.Asn482Tyr
ENST00000239587.9:c.1663A>T ENSP00000239587.5:p.Asn555Tyr
ENST00000515138.1:c.1663A>T ENSP00000424130.1:p.Asn555Tyr
NM_031949.4:c.1663A>T NP_114155.4:p.Asn555Tyr
XM_006715572.2:c.1444A>T XP_006715635.1:p.Asn482Tyr
XM_006715572.4:c.1444A>T XP_006715635.1:p.Asn482Tyr
NM_031949.5:c.1663A>T MANE Select NP_114155.4:p.Asn555Tyr
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