Canonical Allele Identifier: CA2650513332
Gene: USH2A HGNC NCBI

Linked Data

gnomAD v4: 1-216418700-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216418700G>A , CM000663.2:g.216418700G>A GRCh38
NC_000001.10:g.216592042G>A , CM000663.1:g.216592042G>A GRCh37
NC_000001.9:g.214658665G>A NCBI36
NG_009497.1:g.9697C>T
NG_009497.2:g.9749C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.486-21C>T MANE Select ENSP00000305941.3:n.486-21C>T
ENST00000674083.1:c.486-21C>T ENSP00000501296.1:n.486-21C>T
ENST00000307340.7:c.486-21C>T ENSP00000305941.3:n.486-21C>T
ENST00000366942.3:c.486-21C>T ENSP00000355909.3:n.486-21C>T
NM_007123.5:c.486-21C>T NP_009054.5:n.486-21C>T
NM_206933.2:c.486-21C>T NP_996816.2:n.486-21C>T
NM_206933.3:c.486-21C>T NP_996816.2:n.486-21C>T
NM_007123.6:c.486-21C>T NP_009054.6:n.486-21C>T
NM_206933.4:c.486-21C>T MANE Select NP_996816.3:n.486-21C>T
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