Canonical Allele Identifier: CA344849874
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 849638
ClinVar RCV Id: RCV001053647
dbSNP Id: rs1662225737
MyVariant Identifiers: chr1:g.215972426C>G (hg19) chr1:g.215799084C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215799084C>G , CM000663.2:g.215799084C>G GRCh38
NC_000001.10:g.215972426C>G , CM000663.1:g.215972426C>G GRCh37
NC_000001.9:g.214039049C>G NCBI36
NG_009497.1:g.629313G>C
NG_009497.2:g.629365G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.9781G>C MANE Select ENSP00000305941.3:p.Val3261Leu
ENST00000674083.1:c.9781G>C ENSP00000501296.1:p.Val3261Leu
ENST00000307340.7:c.9781G>C ENSP00000305941.3:p.Val3261Leu
NM_206933.2:c.9781G>C NP_996816.2:p.Val3261Leu
NM_206933.3:c.9781G>C NP_996816.2:p.Val3261Leu
NM_206933.4:c.9781G>C MANE Select NP_996816.3:p.Val3261Leu
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