Canonical Allele Identifier: CA1393696
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 594997
ClinVar RCV Id: RCV000730420 RCV001267049 RCV001825461 RCV003453522
dbSNP Id: rs371987720
ExAC: 1:215916561 G / A
gnomAD v2: 1-215916561-G-A
gnomAD v3: 1-215743219-G-A
gnomAD v4: 1-215743219-G-A
MyVariant Identifiers: chr1:g.215916561G>A (hg19) chr1:g.215743219G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215743219G>A , CM000663.2:g.215743219G>A GRCh38
NC_000001.10:g.215916561G>A , CM000663.1:g.215916561G>A GRCh37
NC_000001.9:g.213983184G>A NCBI36
NG_009497.1:g.685178C>T
NG_009497.2:g.685230C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.11506C>T MANE Select ENSP00000305941.3:p.Pro3836Ser
ENST00000674083.1:c.11506C>T ENSP00000501296.1:p.Pro3836Ser
ENST00000307340.7:c.11506C>T ENSP00000305941.3:p.Pro3836Ser
NM_206933.2:c.11506C>T NP_996816.2:p.Pro3836Ser
NM_206933.3:c.11506C>T NP_996816.2:p.Pro3836Ser
NM_206933.4:c.11506C>T MANE Select NP_996816.3:p.Pro3836Ser
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