Canonical Allele Identifier: CA1394309
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs150266899
ExAC: 1:215990449 C / A
gnomAD v2: 1-215990449-C-A
gnomAD v4: 1-215817107-C-A
MyVariant Identifiers: chr1:g.215990449C>A (hg19) chr1:g.215817107C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215817107C>A , CM000663.2:g.215817107C>A GRCh38
NC_000001.10:g.215990449C>A , CM000663.1:g.215990449C>A GRCh37
NC_000001.9:g.214057072C>A NCBI36
NG_009497.1:g.611290G>T
NG_009497.2:g.611342G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.9460G>T MANE Select ENSP00000305941.3:p.Ala3154Ser
ENST00000674083.1:c.9460G>T ENSP00000501296.1:p.Ala3154Ser
ENST00000307340.7:c.9460G>T ENSP00000305941.3:p.Ala3154Ser
NM_206933.2:c.9460G>T NP_996816.2:p.Ala3154Ser
NM_206933.3:c.9460G>T NP_996816.2:p.Ala3154Ser
NM_206933.4:c.9460G>T MANE Select NP_996816.3:p.Ala3154Ser
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