Canonical Allele Identifier: CA344824261
Gene: USH2A HGNC NCBI

Linked Data

COSMIC: COSM1270026
MyVariant Identifiers: chr1:g.215990377A>G (hg19) chr1:g.215817035A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215817035A>G , CM000663.2:g.215817035A>G GRCh38
NC_000001.10:g.215990377A>G , CM000663.1:g.215990377A>G GRCh37
NC_000001.9:g.214057000A>G NCBI36
NG_009497.1:g.611362T>C
NG_009497.2:g.611414T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.9532T>C MANE Select ENSP00000305941.3:p.Ser3178Pro
ENST00000674083.1:c.9532T>C ENSP00000501296.1:p.Ser3178Pro
ENST00000307340.7:c.9532T>C ENSP00000305941.3:p.Ser3178Pro
NM_206933.2:c.9532T>C NP_996816.2:p.Ser3178Pro
NM_206933.3:c.9532T>C NP_996816.2:p.Ser3178Pro
NM_206933.4:c.9532T>C MANE Select NP_996816.3:p.Ser3178Pro
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