Canonical Allele Identifier: CA1394187
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1044164
ClinVar RCV Id: RCV001348375
dbSNP Id: rs371149685
ExAC: 1:215972321 C / T
gnomAD v2: 1-215972321-C-T
gnomAD v3: 1-215798979-C-T
gnomAD v4: 1-215798979-C-T
MyVariant Identifiers: chr1:g.215972321C>T (hg19) chr1:g.215798979C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215798979C>T , CM000663.2:g.215798979C>T GRCh38
NC_000001.10:g.215972321C>T , CM000663.1:g.215972321C>T GRCh37
NC_000001.9:g.214038944C>T NCBI36
NG_009497.1:g.629418G>A
NG_009497.2:g.629470G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000307340.8:c.9886G>A MANE Select ENSP00000305941.3:p.Gly3296Ser
ENST00000674083.1:c.9886G>A ENSP00000501296.1:p.Gly3296Ser
ENST00000307340.7:c.9886G>A ENSP00000305941.3:p.Gly3296Ser
NM_206933.2:c.9886G>A NP_996816.2:p.Gly3296Ser
NM_206933.3:c.9886G>A NP_996816.2:p.Gly3296Ser
NM_206933.4:c.9886G>A MANE Select NP_996816.3:p.Gly3296Ser
Search 100 bp 5'
Search 100 bp 3'