Canonical Allele Identifier: CA4097579
Gene: TTLL2 HGNC NCBI

Linked Data

dbSNP Id: rs139773715
ExAC: 6:167755011 C / A
gnomAD v2: 6-167755011-C-A
gnomAD v3: 6-167341523-C-A
gnomAD v4: 6-167341523-C-A
MyVariant Identifiers: chr6:g.167755011C>A (hg19) chr6:g.167341523C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.167341523C>A , CM000668.2:g.167341523C>A GRCh38
NC_000006.11:g.167755011C>A , CM000668.1:g.167755011C>A GRCh37
NC_000006.10:g.167675001C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000239587.10:c.1623C>A MANE Select ENSP00000239587.5:p.Val541=
ENST00000649884.1:c.1404C>A ENSP00000497040.1:p.Val468=
ENST00000239587.9:c.1623C>A ENSP00000239587.5:p.Val541=
ENST00000515138.1:c.1623C>A ENSP00000424130.1:p.Val541=
NM_031949.4:c.1623C>A NP_114155.4:p.Val541=
XM_006715572.2:c.1404C>A XP_006715635.1:p.Val468=
XM_006715572.4:c.1404C>A XP_006715635.1:p.Val468=
NM_031949.5:c.1623C>A MANE Select NP_114155.4:p.Val541=
Search 100 bp 5'
Search 100 bp 3'