Canonical Allele Identifier: CA67534387

Gene: USP40

Linked Data

• dbSNP Id: rs990889077
• gnomAD v2: 2-234421996-A-G
• gnomAD v3: 2-233513350-A-G
• gnomAD v4: 2-233513350-A-G
• MyVariant Identifiers: chr2:g.234421996A>G (hg19) ; chr2:g.233513350A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233513350A>G , CM000664.2:g.233513350A>G	GRCh38
NC_000002.11:g.234421996A>G , CM000664.1:g.234421996A>G	GRCh37
NC_000002.10:g.234086735A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000678225.2:c.2384-728T>C MANE Select	ENSP00000502952.1:n.2384-728T>C
ENST00000678225.1:c.2382-726T>C	ENSP00000502952.1:n.2382-726T>C
ENST00000251722.10:c.2381-728T>C	ENSP00000251722.6:n.2381-728T>C
ENST00000427112.6:c.2381-728T>C	ENSP00000387898.2:n.2381-728T>C
ENST00000450966.5:c.2417-728T>C	ENSP00000415434.1:n.2417-728T>C
NM_018218.2:c.2417-728T>C	NP_060688.1:n.2417-728T>C
XM_006712612.2:c.2420-728T>C	XP_006712675.1:n.2420-728T>C
XM_011511396.1:c.2420-728T>C	XP_011509698.1:n.2420-728T>C
XM_011511397.1:c.2384-728T>C	XP_011509699.1:n.2384-728T>C
XM_011511398.1:c.2420-728T>C	XP_011509700.1:n.2420-728T>C
XM_011511399.1:c.2111-728T>C	XP_011509701.1:n.2111-728T>C
XM_011511400.1:c.2000-728T>C	XP_011509702.1:n.2000-728T>C
XM_011511401.1:c.2420-671T>C	XP_011509703.1:n.2420-671T>C
XM_011511402.1:c.866-728T>C	XP_011509704.1:n.866-728T>C
NM_001365479.1:c.2384-728T>C	NP_001352408.1:n.2384-728T>C
NM_018218.3:c.2381-728T>C	NP_060688.2:n.2381-728T>C
XM_006712612.3:c.2420-728T>C	XP_006712675.1:n.2420-728T>C
XM_011511396.2:c.2420-728T>C	XP_011509698.1:n.2420-728T>C
XM_011511397.2:c.2384-728T>C	XP_011509699.1:n.2384-728T>C
XM_011511398.3:c.2420-728T>C	XP_011509700.1:n.2420-728T>C
XM_011511399.2:c.2111-728T>C	XP_011509701.1:n.2111-728T>C
XM_011511400.2:c.2000-728T>C	XP_011509702.1:n.2000-728T>C
XM_011511401.2:c.2420-671T>C	XP_011509703.1:n.2420-671T>C
XM_017004427.1:c.1349-728T>C	XP_016859916.1:n.1349-728T>C
XM_017004428.1:c.866-728T>C	XP_016859917.1:n.866-728T>C
XR_001738818.1:n.2435-728T>C
XR_001738819.1:n.2435-728T>C
XR_001738820.1:n.2509-728T>C
NM_001365479.2:c.2384-728T>C MANE Select	NP_001352408.1:n.2384-728T>C
NM_001382295.1:c.2384-728T>C	NP_001369224.1:n.2384-728T>C
NM_001382296.1:c.2384-728T>C	NP_001369225.1:n.2384-728T>C
NM_001382297.1:c.2384-728T>C	NP_001369226.1:n.2384-728T>C
NM_001382298.1:c.2111-728T>C	NP_001369227.1:n.2111-728T>C
NM_001382299.1:c.2228-728T>C	NP_001369228.1:n.2228-728T>C
NM_001382300.1:c.2384-728T>C	NP_001369229.1:n.2384-728T>C
NM_001382301.1:c.2384-728T>C	NP_001369230.1:n.2384-728T>C
NM_018218.4:c.2381-728T>C	NP_060688.2:n.2381-728T>C
NR_168049.1:n.2570-728T>C
NR_168050.1:n.2568-728T>C
NR_168051.1:n.2502-728T>C
NR_168052.1:n.2502-728T>C
NR_168053.1:n.2511-728T>C
NR_168054.1:n.2323-728T>C