Canonical Allele Identifier: CA37437572
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1222339
ClinVar RCV Id: RCV001597969
dbSNP Id: rs35071811
gnomAD v2: 1-215955732-T-TAA
gnomAD v3: 1-215782390-T-TAA
gnomAD v4: 1-215782390-T-TAA
COSMIC: COSN15652915
MyVariant Identifiers: chr1:g.215955734_215955735insAA (hg19) chr1:g.215955732_215955733insAA (hg19) chr1:g.215782392_215782393insAA (hg38) chr1:g.215782390_215782391insAA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215782391_215782392dup , CM000663.2:g.215782391_215782392dup GRCh38
NC_000001.10:g.215955733_215955734dup , CM000663.1:g.215955733_215955734dup GRCh37
NC_000001.9:g.214022356_214022357dup NCBI36
NG_009497.1:g.646005_646006dup
NG_009497.2:g.646057_646058dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.10586-196_10586-195dup MANE Select ENSP00000305941.3:n.10586-196_10586-195dup
ENST00000674083.1:c.10586-196_10586-195dup ENSP00000501296.1:n.10586-196_10586-195dup
ENST00000307340.7:c.10586-196_10586-195dup ENSP00000305941.3:n.10586-196_10586-195dup
NM_206933.2:c.10586-196_10586-195dup NP_996816.2:n.10586-196_10586-195dup
NM_206933.3:c.10586-196_10586-195dup NP_996816.2:n.10586-196_10586-195dup
NM_206933.4:c.10586-196_10586-195dup MANE Select NP_996816.3:n.10586-196_10586-195dup
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