Canonical Allele Identifier: CA344816416
Gene: USH2A HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.215853627A>G (hg19) chr1:g.215680285A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215680285A>G , CM000663.2:g.215680285A>G GRCh38
NC_000001.10:g.215853627A>G , CM000663.1:g.215853627A>G GRCh37
NC_000001.9:g.213920250A>G NCBI36
NG_009497.1:g.748112T>C
NG_009497.2:g.748164T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000307340.8:c.12158T>C MANE Select ENSP00000305941.3:p.Leu4053Ser
ENST00000674083.1:c.12158T>C ENSP00000501296.1:p.Leu4053Ser
ENST00000307340.7:c.12158T>C ENSP00000305941.3:p.Leu4053Ser
NM_206933.2:c.12158T>C NP_996816.2:p.Leu4053Ser
NM_206933.3:c.12158T>C NP_996816.2:p.Leu4053Ser
NM_206933.4:c.12158T>C MANE Select NP_996816.3:p.Leu4053Ser
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