Canonical Allele Identifier: CA37444262
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs952670327
MyVariant Identifiers: chr1:g.215845758C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215845758C>A , CM000663.2:g.215845758C>A GRCh38
NC_000001.10:g.216019100C>A , CM000663.1:g.216019100C>A GRCh37
NC_000001.9:g.214085723C>A NCBI36
NG_009497.1:g.582639G>T
NG_009497.2:g.582691G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000307340.8:c.9055+66G>T MANE Select ENSP00000305941.3:n.9055+66G>T
ENST00000674083.1:c.9055+66G>T ENSP00000501296.1:n.9055+66G>T
ENST00000307340.7:c.9055+66G>T ENSP00000305941.3:n.9055+66G>T
NM_206933.2:c.9055+66G>T NP_996816.2:n.9055+66G>T
NM_206933.3:c.9055+66G>T NP_996816.2:n.9055+66G>T
NM_206933.4:c.9055+66G>T MANE Select NP_996816.3:n.9055+66G>T
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