Canonical Allele Identifier: CA16621594
Gene: USH2A HGNC NCBI
USH2A-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 424939
ClinVar RCV Id: RCV000488319 RCV001199588
dbSNP Id: rs1064797138
COSMIC: COSM3483605 COSM3483606 COSM3483607
MyVariant Identifiers: chr1:g.216380710C>T (hg19) chr1:g.216207368C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216207368C>T , CM000663.2:g.216207368C>T GRCh38
NC_000001.10:g.216380710C>T , CM000663.1:g.216380710C>T GRCh37
NC_000001.9:g.214447333C>T NCBI36
NG_009497.1:g.221029G>A
NG_009497.2:g.221081G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000307340.8:c.3221G>A (USH2A) MANE Select ENSP00000305941.3:p.Trp1074Ter
ENST00000674083.1:c.3221G>A (USH2A) ENSP00000501296.1:p.Trp1074Ter
ENST00000307340.7:c.3221G>A (USH2A) ENSP00000305941.3:p.Trp1074Ter
ENST00000366942.3:c.3221G>A (USH2A) ENSP00000355909.3:p.Trp1074Ter
NM_007123.5:c.3221G>A (USH2A) NP_009054.5:p.Trp1074Ter
NM_206933.2:c.3221G>A (USH2A) NP_996816.2:p.Trp1074Ter
XR_922596.1:n.354+11443C>T (USH2A-AS1)
XR_922597.1:n.354+11443C>T (USH2A-AS1)
XR_922596.3:n.1076+11443C>T (USH2A-AS1)
NM_206933.3:c.3221G>A (USH2A) NP_996816.2:p.Trp1074Ter
NM_007123.6:c.3221G>A (USH2A) NP_009054.6:p.Trp1074Ter
NM_206933.4:c.3221G>A (USH2A) MANE Select NP_996816.3:p.Trp1074Ter
Search 100 bp 5'
Search 100 bp 3'