Canonical Allele Identifier: CA48428464

Gene: USP34

Linked Data

• dbSNP Id: rs991112605
• gnomAD v2: 2-61605232-T-C
• gnomAD v3: 2-61378097-T-C
• gnomAD v4: 2-61378097-T-C
• MyVariant Identifiers: chr2:g.61605232T>C (hg19) ; chr2:g.61378097T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.61378097T>C , CM000664.2:g.61378097T>C	GRCh38
NC_000002.11:g.61605232T>C , CM000664.1:g.61605232T>C	GRCh37
NC_000002.10:g.61458736T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398571.7:c.1076+266A>G MANE Select	ENSP00000381577.2:n.1076+266A>G
ENST00000398571.6:c.1076+266A>G	ENSP00000381577.2:n.1076+266A>G
ENST00000453133.1:c.602+266A>G
NM_014709.3:c.1076+266A>G	NP_055524.3:n.1076+266A>G
NM_014709.4:c.1076+266A>G MANE Select	NP_055524.3:n.1076+266A>G