Canonical Allele Identifier: CA366424158
Gene: TTLL2 HGNC NCBI

Linked Data

dbSNP Id: rs1409320223
gnomAD v3: 6-167341152-A-C
gnomAD v4: 6-167341152-A-C
MyVariant Identifiers: chr6:g.167754640A>C (hg19) chr6:g.167341152A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.167341152A>C , CM000668.2:g.167341152A>C GRCh38
NC_000006.11:g.167754640A>C , CM000668.1:g.167754640A>C GRCh37
NC_000006.10:g.167674630A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000239587.10:c.1252A>C MANE Select ENSP00000239587.5:p.Asn418His
ENST00000649884.1:c.1033A>C ENSP00000497040.1:p.Asn345His
ENST00000239587.9:c.1252A>C ENSP00000239587.5:p.Asn418His
ENST00000515138.1:c.1252A>C ENSP00000424130.1:p.Asn418His
NM_031949.4:c.1252A>C NP_114155.4:p.Asn418His
XM_006715572.2:c.1033A>C XP_006715635.1:p.Asn345His
XM_006715572.4:c.1033A>C XP_006715635.1:p.Asn345His
NM_031949.5:c.1252A>C MANE Select NP_114155.4:p.Asn418His
Search 100 bp 5'
Search 100 bp 3'