Canonical Allele Identifier: CA731337882
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs1215125738
MyVariant Identifiers: chr1:g.215849034C>A (hg19) chr1:g.215675692C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675692C>A , CM000663.2:g.215675692C>A GRCh38
NC_000001.10:g.215849034C>A , CM000663.1:g.215849034C>A GRCh37
NC_000001.9:g.213915657C>A NCBI36
NG_009497.1:g.752705G>T
NG_009497.2:g.752757G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12295-76G>T MANE Select ENSP00000305941.3:n.12295-76G>T
ENST00000674083.1:c.12295-76G>T ENSP00000501296.1:n.12295-76G>T
ENST00000307340.7:c.12295-76G>T ENSP00000305941.3:n.12295-76G>T
NM_206933.2:c.12295-76G>T NP_996816.2:n.12295-76G>T
NM_206933.3:c.12295-76G>T NP_996816.2:n.12295-76G>T
NM_206933.4:c.12295-76G>T MANE Select NP_996816.3:n.12295-76G>T
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