Canonical Allele Identifier: CA423314353
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 766361
ClinVar RCV Id: RCV000944872
dbSNP Id: rs1571626440
MyVariant Identifiers: chr1:g.215901375C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215728033C>G , CM000663.2:g.215728033C>G GRCh38
NC_000001.10:g.215901375C>G , CM000663.1:g.215901375C>G GRCh37
NC_000001.9:g.213967998C>G NCBI36
NG_009497.1:g.700364G>C
NG_009497.2:g.700416G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12063G>C MANE Select ENSP00000305941.3:p.Val4021=
ENST00000674083.1:c.12063G>C ENSP00000501296.1:p.Val4021=
ENST00000307340.7:c.12063G>C ENSP00000305941.3:p.Val4021=
NM_206933.2:c.12063G>C NP_996816.2:p.Val4021=
NM_206933.3:c.12063G>C NP_996816.2:p.Val4021=
NM_206933.4:c.12063G>C MANE Select NP_996816.3:p.Val4021=
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