Canonical Allele Identifier: CA1394924
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 681822
ClinVar RCV Id: RCV000841790 RCV001171526 RCV001271988
dbSNP Id: rs200243588
ExAC: 1:216108091 G / A
gnomAD v2: 1-216108091-G-A
gnomAD v3: 1-215934749-G-A
gnomAD v4: 1-215934749-G-A
MyVariant Identifiers: chr1:g.216108091G>A (hg19) chr1:g.215934749G>A (hg38)
ERepo: CA1394924/MONDO:0019501/005
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215934749G>A , CM000663.2:g.215934749G>A GRCh38
NC_000001.10:g.216108091G>A , CM000663.1:g.216108091G>A GRCh37
NC_000001.9:g.214174714G>A NCBI36
NG_009497.1:g.493648C>T
NG_009497.2:g.493700C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000307340.8:c.7167C>T MANE Select ENSP00000305941.3:p.Ser2389=
ENST00000674083.1:c.7167C>T ENSP00000501296.1:p.Ser2389=
ENST00000307340.7:c.7167C>T ENSP00000305941.3:p.Ser2389=
NM_206933.2:c.7167C>T NP_996816.2:p.Ser2389=
NM_206933.3:c.7167C>T NP_996816.2:p.Ser2389=
NM_206933.4:c.7167C>T MANE Select NP_996816.3:p.Ser2389=
Search 100 bp 5'
Search 100 bp 3'