Canonical Allele Identifier: CA423313015
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1115972
ClinVar RCV Id: RCV001444190
dbSNP Id: rs1385937550
MyVariant Identifiers: chr1:g.215953339T>C (hg19) chr1:g.215779997T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215779997T>C , CM000663.2:g.215779997T>C GRCh38
NC_000001.10:g.215953339T>C , CM000663.1:g.215953339T>C GRCh37
NC_000001.9:g.214019962T>C NCBI36
NG_009497.1:g.648400A>G
NG_009497.2:g.648452A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.10785A>G MANE Select ENSP00000305941.3:p.Pro3595=
ENST00000674083.1:c.10785A>G ENSP00000501296.1:p.Pro3595=
ENST00000307340.7:c.10785A>G ENSP00000305941.3:p.Pro3595=
NM_206933.2:c.10785A>G NP_996816.2:p.Pro3595=
NM_206933.3:c.10785A>G NP_996816.2:p.Pro3595=
NM_206933.4:c.10785A>G MANE Select NP_996816.3:p.Pro3595=
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