Canonical Allele Identifier: CA344849601
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1009657
ClinVar RCV Id: RCV001307176
dbSNP Id: rs1662224935
gnomAD v4: 1-215799057-T-C
MyVariant Identifiers: chr1:g.215972399T>C (hg19) chr1:g.215799057T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215799057T>C , CM000663.2:g.215799057T>C GRCh38
NC_000001.10:g.215972399T>C , CM000663.1:g.215972399T>C GRCh37
NC_000001.9:g.214039022T>C NCBI36
NG_009497.1:g.629340A>G
NG_009497.2:g.629392A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.9808A>G MANE Select ENSP00000305941.3:p.Arg3270Gly
ENST00000674083.1:c.9808A>G ENSP00000501296.1:p.Arg3270Gly
ENST00000307340.7:c.9808A>G ENSP00000305941.3:p.Arg3270Gly
NM_206933.2:c.9808A>G NP_996816.2:p.Arg3270Gly
NM_206933.3:c.9808A>G NP_996816.2:p.Arg3270Gly
NM_206933.4:c.9808A>G MANE Select NP_996816.3:p.Arg3270Gly
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