Canonical Allele Identifier: CA344849387
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs1657974673
gnomAD v3: 1-215675162-C-G
gnomAD v4: 1-215675162-C-G
MyVariant Identifiers: chr1:g.215848504C>G (hg19) chr1:g.215675162C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675162C>G , CM000663.2:g.215675162C>G GRCh38
NC_000001.10:g.215848504C>G , CM000663.1:g.215848504C>G GRCh37
NC_000001.9:g.213915127C>G NCBI36
NG_009497.1:g.753235G>C
NG_009497.2:g.753287G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12749G>C MANE Select ENSP00000305941.3:p.Cys4250Ser
ENST00000674083.1:c.12749G>C ENSP00000501296.1:p.Cys4250Ser
ENST00000307340.7:c.12749G>C ENSP00000305941.3:p.Cys4250Ser
NM_206933.2:c.12749G>C NP_996816.2:p.Cys4250Ser
NM_206933.3:c.12749G>C NP_996816.2:p.Cys4250Ser
NM_206933.4:c.12749G>C MANE Select NP_996816.3:p.Cys4250Ser
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