Canonical Allele Identifier: CA346974451
Gene: USP34 HGNC NCBI

Linked Data

ClinVar Variation Id: 2473611
ClinVar RCV Id: RCV004268640
dbSNP Id: rs1317764083
gnomAD v3: 2-61378375-G-A
gnomAD v4: 2-61378375-G-A
MyVariant Identifiers: chr2:g.61605510G>A (hg19) chr2:g.61378375G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.61378375G>A , CM000664.2:g.61378375G>A GRCh38
NC_000002.11:g.61605510G>A , CM000664.1:g.61605510G>A GRCh37
NC_000002.10:g.61459014G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000398571.7:c.1064C>T MANE Select ENSP00000381577.2:p.Ser355Leu
ENST00000398571.6:c.1064C>T ENSP00000381577.2:p.Ser355Leu
ENST00000453133.1:c.590C>T
NM_014709.3:c.1064C>T NP_055524.3:p.Ser355Leu
NM_014709.4:c.1064C>T MANE Select NP_055524.3:p.Ser355Leu
Search 100 bp 5'
Search 100 bp 3'