Canonical Allele Identifier: CA344828798
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs776983250
gnomAD v3: 1-215728214-A-G
gnomAD v4: 1-215728214-A-G
MyVariant Identifiers: chr1:g.215901556A>G (hg19) chr1:g.215728214A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215728214A>G , CM000663.2:g.215728214A>G GRCh38
NC_000001.10:g.215901556A>G , CM000663.1:g.215901556A>G GRCh37
NC_000001.9:g.213968179A>G NCBI36
NG_009497.1:g.700183T>C
NG_009497.2:g.700235T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.11882T>C MANE Select ENSP00000305941.3:p.Leu3961Pro
ENST00000674083.1:c.11882T>C ENSP00000501296.1:p.Leu3961Pro
ENST00000307340.7:c.11882T>C ENSP00000305941.3:p.Leu3961Pro
NM_206933.2:c.11882T>C NP_996816.2:p.Leu3961Pro
NM_206933.3:c.11882T>C NP_996816.2:p.Leu3961Pro
NM_206933.4:c.11882T>C MANE Select NP_996816.3:p.Leu3961Pro
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