Canonical Allele Identifier: CA1220652430
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs2037678671
gnomAD v4: 1-216324164-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216324164A>G , CM000663.2:g.216324164A>G GRCh38
NC_000001.10:g.216497506A>G , CM000663.1:g.216497506A>G GRCh37
NC_000001.9:g.214564129A>G NCBI36
NG_009497.1:g.104233T>C
NG_009497.2:g.104285T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000307340.8:c.1328+4T>C MANE Select ENSP00000305941.3:n.1328+4T>C
ENST00000674083.1:c.1328+4T>C ENSP00000501296.1:n.1328+4T>C
ENST00000307340.7:c.1328+4T>C ENSP00000305941.3:n.1328+4T>C
ENST00000366942.3:c.1328+4T>C ENSP00000355909.3:n.1328+4T>C
NM_007123.5:c.1328+4T>C NP_009054.5:n.1328+4T>C
NM_206933.2:c.1328+4T>C NP_996816.2:n.1328+4T>C
NM_206933.3:c.1328+4T>C NP_996816.2:n.1328+4T>C
NM_007123.6:c.1328+4T>C NP_009054.6:n.1328+4T>C
NM_206933.4:c.1328+4T>C MANE Select NP_996816.3:n.1328+4T>C
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