Canonical Allele Identifier: CA658822645
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 556604
ClinVar RCV Id: RCV000672632 RCV001073825 RCV003453350 RCV003453351
dbSNP Id: rs1553252499
gnomAD v4: 1-215675308-TC-T
MyVariant Identifiers: chr1:g.215675309del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675312del , CM000663.2:g.215675312del GRCh38
NC_000001.10:g.215848654del , CM000663.1:g.215848654del GRCh37
NC_000001.9:g.213915277del NCBI36
NG_009497.1:g.753088del
NG_009497.2:g.753140del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12602del MANE Select ENSP00000305941.3:p.Gly4201GlufsTer?
ENST00000674083.1:c.12602del ENSP00000501296.1:p.Gly4201GlufsTer?
ENST00000307340.7:c.12602del ENSP00000305941.3:p.Gly4201GlufsTer?
NM_206933.2:c.12602del NP_996816.2:p.Gly4201GlufsTer?
NM_206933.3:c.12602del NP_996816.2:p.Gly4201GlufsTer?
NM_206933.4:c.12602del MANE Select NP_996816.3:p.Gly4201GlufsTer?
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