Canonical Allele Identifier: CA423427759
Gene: USH2A HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.215847687A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215674345A>C , CM000663.2:g.215674345A>C GRCh38
NC_000001.10:g.215847687A>C , CM000663.1:g.215847687A>C GRCh37
NC_000001.9:g.213914310A>C NCBI36
NG_009497.1:g.754052T>G
NG_009497.2:g.754104T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000307340.8:c.13566T>G MANE Select ENSP00000305941.3:p.Leu4522=
ENST00000674083.1:c.13566T>G ENSP00000501296.1:p.Leu4522=
ENST00000307340.7:c.13566T>G ENSP00000305941.3:p.Leu4522=
NM_206933.2:c.13566T>G NP_996816.2:p.Leu4522=
NM_206933.3:c.13566T>G NP_996816.2:p.Leu4522=
NM_206933.4:c.13566T>G MANE Select NP_996816.3:p.Leu4522=