Canonical Allele Identifier: CA423308716
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1606118
ClinVar RCV Id: RCV002160226
dbSNP Id: rs2102796361
MyVariant Identifiers: chr1:g.215990396C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215817054C>G , CM000663.2:g.215817054C>G GRCh38
NC_000001.10:g.215990396C>G , CM000663.1:g.215990396C>G GRCh37
NC_000001.9:g.214057019C>G NCBI36
NG_009497.1:g.611343G>C
NG_009497.2:g.611395G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.9513G>C MANE Select ENSP00000305941.3:p.Val3171=
ENST00000674083.1:c.9513G>C ENSP00000501296.1:p.Val3171=
ENST00000307340.7:c.9513G>C ENSP00000305941.3:p.Val3171=
NM_206933.2:c.9513G>C NP_996816.2:p.Val3171=
NM_206933.3:c.9513G>C NP_996816.2:p.Val3171=
NM_206933.4:c.9513G>C MANE Select NP_996816.3:p.Val3171=
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