Canonical Allele Identifier: CA366424227
Gene: TTLL2 HGNC NCBI

Linked Data

gnomAD v4: 6-167341183-G-A
MyVariant Identifiers: chr6:g.167754671G>A (hg19) chr6:g.167341183G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.167341183G>A , CM000668.2:g.167341183G>A GRCh38
NC_000006.11:g.167754671G>A , CM000668.1:g.167754671G>A GRCh37
NC_000006.10:g.167674661G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000239587.10:c.1283G>A MANE Select ENSP00000239587.5:p.Ser428Asn
ENST00000649884.1:c.1064G>A ENSP00000497040.1:p.Ser355Asn
ENST00000239587.9:c.1283G>A ENSP00000239587.5:p.Ser428Asn
ENST00000515138.1:c.1283G>A ENSP00000424130.1:p.Ser428Asn
NM_031949.4:c.1283G>A NP_114155.4:p.Ser428Asn
XM_006715572.2:c.1064G>A XP_006715635.1:p.Ser355Asn
XM_006715572.4:c.1064G>A XP_006715635.1:p.Ser355Asn
NM_031949.5:c.1283G>A MANE Select NP_114155.4:p.Ser428Asn
Search 100 bp 5'
Search 100 bp 3'