Allele Registry

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Canonical Allele Identifier: CA658822646

Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 560532

ClinVar RCV Id: RCV002544691 RCV003465544

dbSNP Id: rs1558049084

MyVariant Identifiers: chr1:g.215848859del (hg19) chr1:g.215675517del (hg38)

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Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215675519del , CM000663.2:g.215675519del	GRCh38
NC_000001.10:g.215848861del , CM000663.1:g.215848861del	GRCh37
NC_000001.9:g.213915484del	NCBI36
NG_009497.1:g.752880del
NG_009497.2:g.752932del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.12394del MANE Select	ENSP00000305941.3:p.Leu4132TrpfsTer?
ENST00000674083.1:c.12394del	ENSP00000501296.1:p.Leu4132TrpfsTer?
ENST00000307340.7:c.12394del	ENSP00000305941.3:p.Leu4132TrpfsTer?
NM_206933.2:c.12394del	NP_996816.2:p.Leu4132TrpfsTer?
NM_206933.3:c.12394del	NP_996816.2:p.Leu4132TrpfsTer?
NM_206933.4:c.12394del MANE Select	NP_996816.3:p.Leu4132TrpfsTer?

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