Canonical Allele Identifier: CA344841488
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 2192000
ClinVar RCV Id: RCV002643617 RCV003889252
dbSNP Id: rs1397044127
gnomAD v4: 1-215671211-G-C
MyVariant Identifiers: chr1:g.215844553G>C (hg19) chr1:g.215671211G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215671211G>C , CM000663.2:g.215671211G>C GRCh38
NC_000001.10:g.215844553G>C , CM000663.1:g.215844553G>C GRCh37
NC_000001.9:g.213911176G>C NCBI36
NG_009497.1:g.757186C>G
NG_009497.2:g.757238C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.13894C>G MANE Select ENSP00000305941.3:p.Pro4632Ala
ENST00000674083.1:c.13894C>G ENSP00000501296.1:p.Pro4632Ala
ENST00000307340.7:c.13894C>G ENSP00000305941.3:p.Pro4632Ala
NM_206933.2:c.13894C>G NP_996816.2:p.Pro4632Ala
NM_206933.3:c.13894C>G NP_996816.2:p.Pro4632Ala
NM_206933.4:c.13894C>G MANE Select NP_996816.3:p.Pro4632Ala
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