Canonical Allele Identifier: CA423306867
Gene: USH2A HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.215813973C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215640631C>G , CM000663.2:g.215640631C>G GRCh38
NC_000001.10:g.215813973C>G , CM000663.1:g.215813973C>G GRCh37
NC_000001.9:g.213880596C>G NCBI36
NG_009497.1:g.787766G>C
NG_009497.2:g.787818G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.14895G>C MANE Select ENSP00000305941.3:p.Val4965=
ENST00000674083.1:c.14895G>C ENSP00000501296.1:p.Val4965=
ENST00000307340.7:c.14895G>C ENSP00000305941.3:p.Val4965=
NM_206933.2:c.14895G>C NP_996816.2:p.Val4965=
NM_206933.3:c.14895G>C NP_996816.2:p.Val4965=
NM_206933.4:c.14895G>C MANE Select NP_996816.3:p.Val4965=