Canonical Allele Identifier: CA1393413
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs766547222
ExAC: 1:215848495 C / G
gnomAD v2: 1-215848495-C-G
gnomAD v4: 1-215675153-C-G
MyVariant Identifiers: chr1:g.215848495C>G (hg19) chr1:g.215675153C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675153C>G , CM000663.2:g.215675153C>G GRCh38
NC_000001.10:g.215848495C>G , CM000663.1:g.215848495C>G GRCh37
NC_000001.9:g.213915118C>G NCBI36
NG_009497.1:g.753244G>C
NG_009497.2:g.753296G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12758G>C MANE Select ENSP00000305941.3:p.Trp4253Ser
ENST00000674083.1:c.12758G>C ENSP00000501296.1:p.Trp4253Ser
ENST00000307340.7:c.12758G>C ENSP00000305941.3:p.Trp4253Ser
NM_206933.2:c.12758G>C NP_996816.2:p.Trp4253Ser
NM_206933.3:c.12758G>C NP_996816.2:p.Trp4253Ser
NM_206933.4:c.12758G>C MANE Select NP_996816.3:p.Trp4253Ser
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