Canonical Allele Identifier: CA1395075
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs770698966
ExAC: 1:216172186 G / A
gnomAD v2: 1-216172186-G-A
gnomAD v3: 1-215998844-G-A
gnomAD v4: 1-215998844-G-A
MyVariant Identifiers: chr1:g.216172186G>A (hg19) chr1:g.215998844G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215998844G>A , CM000663.2:g.215998844G>A GRCh38
NC_000001.10:g.216172186G>A , CM000663.1:g.216172186G>A GRCh37
NC_000001.9:g.214238809G>A NCBI36
NG_009497.1:g.429553C>T
NG_009497.2:g.429605C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000307340.8:c.6657+43C>T MANE Select ENSP00000305941.3:n.6657+43C>T
ENST00000674083.1:c.6657+43C>T ENSP00000501296.1:n.6657+43C>T
ENST00000307340.7:c.6657+43C>T ENSP00000305941.3:n.6657+43C>T
NM_206933.2:c.6657+43C>T NP_996816.2:n.6657+43C>T
NM_206933.3:c.6657+43C>T NP_996816.2:n.6657+43C>T
NM_206933.4:c.6657+43C>T MANE Select NP_996816.3:n.6657+43C>T
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