Canonical Allele Identifier: CA1220414152
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215779644G= , CM000663.2:g.215779644G= GRCh38
NC_000001.10:g.215952986G= , CM000663.1:g.215952986G= GRCh37
NC_000001.9:g.214019609G= NCBI36
NG_009497.1:g.648753C=
NG_009497.2:g.648805C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.10939+199C= MANE Select ENSP00000305941.3:n.10939+199C=
ENST00000674083.1:c.10939+199C= ENSP00000501296.1:n.10939+199C=
ENST00000307340.7:c.10939+199C= ENSP00000305941.3:n.10939+199C=
NM_206933.2:c.10939+199C= NP_996816.2:n.10939+199C=
NM_206933.3:c.10939+199C= NP_996816.2:n.10939+199C=
NM_206933.4:c.10939+199C= MANE Select NP_996816.3:n.10939+199C=
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