Canonical Allele Identifier: CA529002143
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs1470263075
gnomAD v2: 1-215901746-G-A
gnomAD v4: 1-215728404-G-A
MyVariant Identifiers: chr1:g.215901746G>A (hg19) chr1:g.215728404G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215728404G>A , CM000663.2:g.215728404G>A GRCh38
NC_000001.10:g.215901746G>A , CM000663.1:g.215901746G>A GRCh37
NC_000001.9:g.213968369G>A NCBI36
NG_009497.1:g.699993C>T
NG_009497.2:g.700045C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.11712-20C>T MANE Select ENSP00000305941.3:n.11712-20C>T
ENST00000674083.1:c.11712-20C>T ENSP00000501296.1:n.11712-20C>T
ENST00000307340.7:c.11712-20C>T ENSP00000305941.3:n.11712-20C>T
NM_206933.2:c.11712-20C>T NP_996816.2:n.11712-20C>T
NM_206933.3:c.11712-20C>T NP_996816.2:n.11712-20C>T
NM_206933.4:c.11712-20C>T MANE Select NP_996816.3:n.11712-20C>T
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