Canonical Allele Identifier: CA346974530

Gene: USP34

Linked Data

• dbSNP Id: rs1214512516
• gnomAD v2: 2-61605523-C-T
• gnomAD v4: 2-61378388-C-T
• MyVariant Identifiers: chr2:g.61605523C>T (hg19) ; chr2:g.61378388C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.61378388C>T , CM000664.2:g.61378388C>T	GRCh38
NC_000002.11:g.61605523C>T , CM000664.1:g.61605523C>T	GRCh37
NC_000002.10:g.61459027C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398571.7:c.1051G>A MANE Select	ENSP00000381577.2:p.Glu351Lys
ENST00000398571.6:c.1051G>A	ENSP00000381577.2:p.Glu351Lys
ENST00000453133.1:c.577G>A
NM_014709.3:c.1051G>A	NP_055524.3:p.Glu351Lys
NM_014709.4:c.1051G>A MANE Select	NP_055524.3:p.Glu351Lys