Canonical Allele Identifier: CA344849310
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs1419630958
gnomAD v3: 1-215675154-A-C
gnomAD v4: 1-215675154-A-C
MyVariant Identifiers: chr1:g.215848496A>C (hg19) chr1:g.215675154A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675154A>C , CM000663.2:g.215675154A>C GRCh38
NC_000001.10:g.215848496A>C , CM000663.1:g.215848496A>C GRCh37
NC_000001.9:g.213915119A>C NCBI36
NG_009497.1:g.753243T>G
NG_009497.2:g.753295T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12757T>G MANE Select ENSP00000305941.3:p.Trp4253Gly
ENST00000674083.1:c.12757T>G ENSP00000501296.1:p.Trp4253Gly
ENST00000307340.7:c.12757T>G ENSP00000305941.3:p.Trp4253Gly
NM_206933.2:c.12757T>G NP_996816.2:p.Trp4253Gly
NM_206933.3:c.12757T>G NP_996816.2:p.Trp4253Gly
NM_206933.4:c.12757T>G MANE Select NP_996816.3:p.Trp4253Gly
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