Canonical Allele Identifier: CA366424369
Gene: TTLL2 HGNC NCBI

Linked Data

gnomAD v4: 6-167341252-A-C
MyVariant Identifiers: chr6:g.167754740A>C (hg19) chr6:g.167341252A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.167341252A>C , CM000668.2:g.167341252A>C GRCh38
NC_000006.11:g.167754740A>C , CM000668.1:g.167754740A>C GRCh37
NC_000006.10:g.167674730A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000239587.10:c.1352A>C MANE Select ENSP00000239587.5:p.Asp451Ala
ENST00000649884.1:c.1133A>C ENSP00000497040.1:p.Asp378Ala
ENST00000239587.9:c.1352A>C ENSP00000239587.5:p.Asp451Ala
ENST00000515138.1:c.1352A>C ENSP00000424130.1:p.Asp451Ala
NM_031949.4:c.1352A>C NP_114155.4:p.Asp451Ala
XM_006715572.2:c.1133A>C XP_006715635.1:p.Asp378Ala
XM_006715572.4:c.1133A>C XP_006715635.1:p.Asp378Ala
NM_031949.5:c.1352A>C MANE Select NP_114155.4:p.Asp451Ala
Search 100 bp 5'
Search 100 bp 3'