Canonical Allele Identifier: CA1396565
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 555114
ClinVar RCV Id: RCV000670865 RCV001868248 RCV003453313 RCV003453314
dbSNP Id: rs187897763
ExAC: 1:216497592 C / A
gnomAD v3: 1-216324250-C-A
gnomAD v4: 1-216324250-C-A
MyVariant Identifiers: chr1:g.216497592C>A (hg19) chr1:g.216324250C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216324250C>A , CM000663.2:g.216324250C>A GRCh38
NC_000001.10:g.216497592C>A , CM000663.1:g.216497592C>A GRCh37
NC_000001.9:g.214564215C>A NCBI36
NG_009497.1:g.104147G>T
NG_009497.2:g.104199G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000307340.8:c.1246G>T MANE Select ENSP00000305941.3:p.Ala416Ser
ENST00000674083.1:c.1246G>T ENSP00000501296.1:p.Ala416Ser
ENST00000307340.7:c.1246G>T ENSP00000305941.3:p.Ala416Ser
ENST00000366942.3:c.1246G>T ENSP00000355909.3:p.Ala416Ser
NM_007123.5:c.1246G>T NP_009054.5:p.Ala416Ser
NM_206933.2:c.1246G>T NP_996816.2:p.Ala416Ser
NM_206933.3:c.1246G>T NP_996816.2:p.Ala416Ser
NM_007123.6:c.1246G>T NP_009054.6:p.Ala416Ser
NM_206933.4:c.1246G>T MANE Select NP_996816.3:p.Ala416Ser
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Search 100 bp 3'