Canonical Allele Identifier: CA37413212
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs772357461
gnomAD v2: 1-215848892-G-T
gnomAD v3: 1-215675550-G-T
gnomAD v4: 1-215675550-G-T
COSMIC: COSM344968
MyVariant Identifiers: chr1:g.215848892G>T (hg19) chr1:g.215675550G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675550G>T , CM000663.2:g.215675550G>T GRCh38
NC_000001.10:g.215848892G>T , CM000663.1:g.215848892G>T GRCh37
NC_000001.9:g.213915515G>T NCBI36
NG_009497.1:g.752847C>A
NG_009497.2:g.752899C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12361C>A MANE Select ENSP00000305941.3:p.Arg4121Ser
ENST00000674083.1:c.12361C>A ENSP00000501296.1:p.Arg4121Ser
ENST00000307340.7:c.12361C>A ENSP00000305941.3:p.Arg4121Ser
NM_206933.2:c.12361C>A NP_996816.2:p.Arg4121Ser
NM_206933.3:c.12361C>A NP_996816.2:p.Arg4121Ser
NM_206933.4:c.12361C>A MANE Select NP_996816.3:p.Arg4121Ser
Search 100 bp 5'
Search 100 bp 3'