Canonical Allele Identifier: CA1393174
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1399405
ClinVar RCV Id: RCV001917654
dbSNP Id: rs548761125
ExAC: 1:215844496 G / C
gnomAD v2: 1-215844496-G-C
gnomAD v3: 1-215671154-G-C
gnomAD v4: 1-215671154-G-C
COSMIC: COSM425292 COSM4815342
MyVariant Identifiers: chr1:g.215844496G>C (hg19) chr1:g.215671154G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215671154G>C , CM000663.2:g.215671154G>C GRCh38
NC_000001.10:g.215844496G>C , CM000663.1:g.215844496G>C GRCh37
NC_000001.9:g.213911119G>C NCBI36
NG_009497.1:g.757243C>G
NG_009497.2:g.757295C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.13951C>G MANE Select ENSP00000305941.3:p.Pro4651Ala
ENST00000674083.1:c.13951C>G ENSP00000501296.1:p.Pro4651Ala
ENST00000307340.7:c.13951C>G ENSP00000305941.3:p.Pro4651Ala
NM_206933.2:c.13951C>G NP_996816.2:p.Pro4651Ala
NM_206933.3:c.13951C>G NP_996816.2:p.Pro4651Ala
NM_206933.4:c.13951C>G MANE Select NP_996816.3:p.Pro4651Ala
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