Canonical Allele Identifier: CA179593
Gene: USH2A HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.216421840A>G
GRCh37 chr1:g.216595182A>G
gnomAD v2:
1:216595182 A / G
gnomAD v3:
1:216421840 A / G
gnomAD v4:
chr1-216421840-A-G
Joint Max Group AF 0.00087202 (AMR)
Genomes Max Group AF 0.00070819 (AMR)
Exomes Max Group AF 0.00083199 (AMR)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216421840A>G , CM000663.2:g.216421840A>G GRCh38
NC_000001.10:g.216595182A>G , CM000663.1:g.216595182A>G GRCh37
NC_000001.9:g.214661805A>G NCBI36
NG_009497.1:g.6557T>C
NG_009497.2:g.6609T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.485+12T>C MANE Select ENSP00000305941.3:n.485+12T>C
ENST00000674083.1:c.485+12T>C ENSP00000501296.1:n.485+12T>C
ENST00000307340.7:c.485+12T>C ENSP00000305941.3:n.485+12T>C
ENST00000366942.3:c.485+12T>C ENSP00000355909.3:n.485+12T>C
NM_007123.5:c.485+12T>C NP_009054.5:n.485+12T>C
NM_206933.2:c.485+12T>C NP_996816.2:n.485+12T>C
NM_206933.3:c.485+12T>C NP_996816.2:n.485+12T>C
NM_007123.6:c.485+12T>C NP_009054.6:n.485+12T>C
NM_206933.4:c.485+12T>C MANE Select NP_996816.3:n.485+12T>C
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