Canonical Allele Identifier: CA344849935
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 2414096
ClinVar RCV Id: RCV003106429
dbSNP Id: rs1394540351
gnomAD v3: 1-215675232-C-T
gnomAD v4: 1-215675232-C-T
MyVariant Identifiers: chr1:g.215848574C>T (hg19) chr1:g.215675232C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675232C>T , CM000663.2:g.215675232C>T GRCh38
NC_000001.10:g.215848574C>T , CM000663.1:g.215848574C>T GRCh37
NC_000001.9:g.213915197C>T NCBI36
NG_009497.1:g.753165G>A
NG_009497.2:g.753217G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12679G>A MANE Select ENSP00000305941.3:p.Asp4227Asn
ENST00000674083.1:c.12679G>A ENSP00000501296.1:p.Asp4227Asn
ENST00000307340.7:c.12679G>A ENSP00000305941.3:p.Asp4227Asn
NM_206933.2:c.12679G>A NP_996816.2:p.Asp4227Asn
NM_206933.3:c.12679G>A NP_996816.2:p.Asp4227Asn
NM_206933.4:c.12679G>A MANE Select NP_996816.3:p.Asp4227Asn
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