Canonical Allele Identifier: CA37437036
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs1055379984
gnomAD v2: 1-215955164-T-C
gnomAD v3: 1-215781822-T-C
gnomAD v4: 1-215781822-T-C
MyVariant Identifiers: chr1:g.215955164T>C (hg19) chr1:g.215781822T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215781822T>C , CM000663.2:g.215781822T>C GRCh38
NC_000001.10:g.215955164T>C , CM000663.1:g.215955164T>C GRCh37
NC_000001.9:g.214021787T>C NCBI36
NG_009497.1:g.646575A>G
NG_009497.2:g.646627A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.10740+220A>G MANE Select ENSP00000305941.3:n.10740+220A>G
ENST00000674083.1:c.10740+220A>G ENSP00000501296.1:n.10740+220A>G
ENST00000307340.7:c.10740+220A>G ENSP00000305941.3:n.10740+220A>G
NM_206933.2:c.10740+220A>G NP_996816.2:n.10740+220A>G
NM_206933.3:c.10740+220A>G NP_996816.2:n.10740+220A>G
NM_206933.4:c.10740+220A>G MANE Select NP_996816.3:n.10740+220A>G
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