Canonical Allele Identifier: CA37427945
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs956157915
gnomAD v2: 1-215990309-TG-T
gnomAD v3: 1-215816967-TG-T
gnomAD v4: 1-215816967-TG-T
MyVariant Identifiers: chr1:g.215990310del (hg19) chr1:g.215816969del (hg38) chr1:g.215816968del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215816969del , CM000663.2:g.215816969del GRCh38
NC_000001.10:g.215990311del , CM000663.1:g.215990311del GRCh37
NC_000001.9:g.214056934del NCBI36
NG_009497.1:g.611429del
NG_009497.2:g.611481del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.9570+29del MANE Select ENSP00000305941.3:n.9570+29del
ENST00000674083.1:c.9570+29del ENSP00000501296.1:n.9570+29del
ENST00000307340.7:c.9570+29del ENSP00000305941.3:n.9570+29del
NM_206933.2:c.9570+29del NP_996816.2:n.9570+29del
NM_206933.3:c.9570+29del NP_996816.2:n.9570+29del
NM_206933.4:c.9570+29del MANE Select NP_996816.3:n.9570+29del
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