Canonical Allele Identifier: CA37428945
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs890302067
gnomAD v2: 1-215939923-T-G
gnomAD v3: 1-215766581-T-G
gnomAD v4: 1-215766581-T-G
MyVariant Identifiers: chr1:g.215939923T>G (hg19) chr1:g.215766581T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215766581T>G , CM000663.2:g.215766581T>G GRCh38
NC_000001.10:g.215939923T>G , CM000663.1:g.215939923T>G GRCh37
NC_000001.9:g.214006546T>G NCBI36
NG_009497.1:g.661816A>C
NG_009497.2:g.661868A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.11047+100A>C MANE Select ENSP00000305941.3:n.11047+100A>C
ENST00000674083.1:c.11047+100A>C ENSP00000501296.1:n.11047+100A>C
ENST00000307340.7:c.11047+100A>C ENSP00000305941.3:n.11047+100A>C
NM_206933.2:c.11047+100A>C NP_996816.2:n.11047+100A>C
NM_206933.3:c.11047+100A>C NP_996816.2:n.11047+100A>C
NM_206933.4:c.11047+100A>C MANE Select NP_996816.3:n.11047+100A>C
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