Canonical Allele Identifier: CA48428884

Gene: USP34

Linked Data

• dbSNP Id: rs749000707
• gnomAD v2: 2-61605670-G-A
• gnomAD v3: 2-61378535-G-A
• gnomAD v4: 2-61378535-G-A
• MyVariant Identifiers: chr2:g.61605670G>A (hg19) ; chr2:g.61378535G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.61378535G>A , CM000664.2:g.61378535G>A	GRCh38
NC_000002.11:g.61605670G>A , CM000664.1:g.61605670G>A	GRCh37
NC_000002.10:g.61459174G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398571.7:c.1015-111C>T MANE Select	ENSP00000381577.2:n.1015-111C>T
ENST00000398571.6:c.1015-111C>T	ENSP00000381577.2:n.1015-111C>T
ENST00000453133.1:c.541-111C>T
NM_014709.3:c.1015-111C>T	NP_055524.3:n.1015-111C>T
NM_014709.4:c.1015-111C>T MANE Select	NP_055524.3:n.1015-111C>T