Canonical Allele Identifier: CA731342496
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs1311988583
gnomAD v3: 1-215728582-G-GAC
gnomAD v4: 1-215728582-G-GAC
MyVariant Identifiers: chr1:g.215901924_215901925insAC (hg19) chr1:g.215728582_215728583insAC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215728605_215728606dup , CM000663.2:g.215728605_215728606dup GRCh38
NC_000001.10:g.215901947_215901948dup , CM000663.1:g.215901947_215901948dup GRCh37
NC_000001.9:g.213968570_213968571dup NCBI36
NG_009497.1:g.699813_699814dup
NG_009497.2:g.699865_699866dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.11712-200_11712-199dup MANE Select ENSP00000305941.3:n.11712-200_11712-199dup
ENST00000674083.1:c.11712-200_11712-199dup ENSP00000501296.1:n.11712-200_11712-199dup
ENST00000307340.7:c.11712-200_11712-199dup ENSP00000305941.3:n.11712-200_11712-199dup
NM_206933.2:c.11712-200_11712-199dup NP_996816.2:n.11712-200_11712-199dup
NM_206933.3:c.11712-200_11712-199dup NP_996816.2:n.11712-200_11712-199dup
NM_206933.4:c.11712-200_11712-199dup MANE Select NP_996816.3:n.11712-200_11712-199dup
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