Canonical Allele Identifier: CA37459797
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs1024174341
gnomAD v2: 1-216040743-A-G
gnomAD v3: 1-215867401-A-G
gnomAD v4: 1-215867401-A-G
MyVariant Identifiers: chr1:g.216040743A>G (hg19) chr1:g.215867401A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215867401A>G , CM000663.2:g.215867401A>G GRCh38
NC_000001.10:g.216040743A>G , CM000663.1:g.216040743A>G GRCh37
NC_000001.9:g.214107366A>G NCBI36
NG_009497.1:g.560996T>C
NG_009497.2:g.561048T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.8682-231T>C MANE Select ENSP00000305941.3:n.8682-231T>C
ENST00000674083.1:c.8682-231T>C ENSP00000501296.1:n.8682-231T>C
ENST00000307340.7:c.8682-231T>C ENSP00000305941.3:n.8682-231T>C
NM_206933.2:c.8682-231T>C NP_996816.2:n.8682-231T>C
NM_206933.3:c.8682-231T>C NP_996816.2:n.8682-231T>C
NM_206933.4:c.8682-231T>C MANE Select NP_996816.3:n.8682-231T>C
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