Canonical Allele Identifier: CA4097497
Gene: TTLL2 HGNC NCBI

Linked Data

dbSNP Id: rs572916535
ExAC: 6:167754624 T / A
gnomAD v2: 6-167754624-T-A
gnomAD v3: 6-167341136-T-A
gnomAD v4: 6-167341136-T-A
MyVariant Identifiers: chr6:g.167754624T>A (hg19) chr6:g.167341136T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.167341136T>A , CM000668.2:g.167341136T>A GRCh38
NC_000006.11:g.167754624T>A , CM000668.1:g.167754624T>A GRCh37
NC_000006.10:g.167674614T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000239587.10:c.1236T>A MANE Select ENSP00000239587.5:p.Ile412=
ENST00000649884.1:c.1017T>A ENSP00000497040.1:p.Ile339=
ENST00000239587.9:c.1236T>A ENSP00000239587.5:p.Ile412=
ENST00000515138.1:c.1236T>A ENSP00000424130.1:p.Ile412=
NM_031949.4:c.1236T>A NP_114155.4:p.Ile412=
XM_006715572.2:c.1017T>A XP_006715635.1:p.Ile339=
XM_006715572.4:c.1017T>A XP_006715635.1:p.Ile339=
NM_031949.5:c.1236T>A MANE Select NP_114155.4:p.Ile412=
Search 100 bp 5'
Search 100 bp 3'