Canonical Allele Identifier: CA1396294
Gene: USH2A HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.216250892G>A
GRCh37 chr1:g.216424234G>A
gnomAD v2:
1:216424234 G / A
gnomAD v3:
1:216250892 G / A
gnomAD v4:
chr1-216250892-G-A
Joint Max Group AF 0.00060171 (AFR)
Genomes Max Group AF 0.00058089 (AFR)
Exomes Max Group AF 0.00052328 (EAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216250892G>A , CM000663.2:g.216250892G>A GRCh38
NC_000001.10:g.216424234G>A , CM000663.1:g.216424234G>A GRCh37
NC_000001.9:g.214490857G>A NCBI36
NG_009497.1:g.177505C>T
NG_009497.2:g.177557C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.2167+11C>T MANE Select ENSP00000305941.3:n.2167+11C>T
ENST00000674083.1:c.2167+11C>T ENSP00000501296.1:n.2167+11C>T
ENST00000307340.7:c.2167+11C>T ENSP00000305941.3:n.2167+11C>T
ENST00000366942.3:c.2167+11C>T ENSP00000355909.3:n.2167+11C>T
NM_007123.5:c.2167+11C>T NP_009054.5:n.2167+11C>T
NM_206933.2:c.2167+11C>T NP_996816.2:n.2167+11C>T
NM_206933.3:c.2167+11C>T NP_996816.2:n.2167+11C>T
NM_007123.6:c.2167+11C>T NP_009054.6:n.2167+11C>T
NM_206933.4:c.2167+11C>T MANE Select NP_996816.3:n.2167+11C>T
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