Canonical Allele Identifier: CA344821815
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 2417168
ClinVar RCV Id: RCV003111996
dbSNP Id: rs766639909
gnomAD v2: 1-215987152-C-A
gnomAD v4: 1-215813810-C-A
MyVariant Identifiers: chr1:g.215987152C>A (hg19) chr1:g.215813810C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215813810C>A , CM000663.2:g.215813810C>A GRCh38
NC_000001.10:g.215987152C>A , CM000663.1:g.215987152C>A GRCh37
NC_000001.9:g.214053775C>A NCBI36
NG_009497.1:g.614587G>T
NG_009497.2:g.614639G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.9665G>T MANE Select ENSP00000305941.3:p.Cys3222Phe
ENST00000674083.1:c.9665G>T ENSP00000501296.1:p.Cys3222Phe
ENST00000307340.7:c.9665G>T ENSP00000305941.3:p.Cys3222Phe
NM_206933.2:c.9665G>T NP_996816.2:p.Cys3222Phe
NM_206933.3:c.9665G>T NP_996816.2:p.Cys3222Phe
NM_206933.4:c.9665G>T MANE Select NP_996816.3:p.Cys3222Phe
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