Canonical Allele Identifier: CA48428500
Gene: USP34 HGNC NCBI

Linked Data

dbSNP Id: rs976558193
gnomAD v2: 2-61605311-A-G
gnomAD v3: 2-61378176-A-G
gnomAD v4: 2-61378176-A-G
MyVariant Identifiers: chr2:g.61605311A>G (hg19) chr2:g.61378176A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.61378176A>G , CM000664.2:g.61378176A>G GRCh38
NC_000002.11:g.61605311A>G , CM000664.1:g.61605311A>G GRCh37
NC_000002.10:g.61458815A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000398571.7:c.1076+187T>C MANE Select ENSP00000381577.2:n.1076+187T>C
ENST00000398571.6:c.1076+187T>C ENSP00000381577.2:n.1076+187T>C
ENST00000453133.1:c.602+187T>C
NM_014709.3:c.1076+187T>C NP_055524.3:n.1076+187T>C
NM_014709.4:c.1076+187T>C MANE Select NP_055524.3:n.1076+187T>C
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