Canonical Allele Identifier: CA1393578
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs758227255
ExAC: 1:215901414 ATCG / A
gnomAD v2: 1-215901414-ATCG-A
MyVariant Identifiers: chr1:g.215901415_215901417del (hg19) chr1:g.215728073_215728075del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215728076_215728078del , CM000663.2:g.215728076_215728078del GRCh38
NC_000001.10:g.215901418_215901420del , CM000663.1:g.215901418_215901420del GRCh37
NC_000001.9:g.213968041_213968043del NCBI36
NG_009497.1:g.700322_700324del
NG_009497.2:g.700374_700376del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12021_12023del MANE Select ENSP00000305941.3:p.Asp4008del
ENST00000674083.1:c.12021_12023del ENSP00000501296.1:p.Asp4008del
ENST00000307340.7:c.12021_12023del ENSP00000305941.3:p.Asp4008del
NM_206933.2:c.12021_12023del NP_996816.2:p.Asp4008del
NM_206933.3:c.12021_12023del NP_996816.2:p.Asp4008del
NM_206933.4:c.12021_12023del MANE Select NP_996816.3:p.Asp4008del
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