Canonical Allele Identifier: CA366425120
Gene: TTLL2 HGNC NCBI

Linked Data

gnomAD v4: 6-167341599-C-G
MyVariant Identifiers: chr6:g.167755087C>G (hg19) chr6:g.167341599C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.167341599C>G , CM000668.2:g.167341599C>G GRCh38
NC_000006.11:g.167755087C>G , CM000668.1:g.167755087C>G GRCh37
NC_000006.10:g.167675077C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000239587.10:c.1699C>G MANE Select ENSP00000239587.5:p.Leu567Val
ENST00000649884.1:c.1480C>G ENSP00000497040.1:p.Leu494Val
ENST00000239587.9:c.1699C>G ENSP00000239587.5:p.Leu567Val
ENST00000515138.1:c.1699C>G ENSP00000424130.1:p.Leu567Val
NM_031949.4:c.1699C>G NP_114155.4:p.Leu567Val
XM_006715572.2:c.1480C>G XP_006715635.1:p.Leu494Val
XM_006715572.4:c.1480C>G XP_006715635.1:p.Leu494Val
NM_031949.5:c.1699C>G MANE Select NP_114155.4:p.Leu567Val
Search 100 bp 5'
Search 100 bp 3'