Canonical Allele Identifier: CA344844676
Gene: USH2A HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.215847707C>G (hg19) chr1:g.215674365C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215674365C>G , CM000663.2:g.215674365C>G GRCh38
NC_000001.10:g.215847707C>G , CM000663.1:g.215847707C>G GRCh37
NC_000001.9:g.213914330C>G NCBI36
NG_009497.1:g.754032G>C
NG_009497.2:g.754084G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.13546G>C MANE Select ENSP00000305941.3:p.Gly4516Arg
ENST00000674083.1:c.13546G>C ENSP00000501296.1:p.Gly4516Arg
ENST00000307340.7:c.13546G>C ENSP00000305941.3:p.Gly4516Arg
NM_206933.2:c.13546G>C NP_996816.2:p.Gly4516Arg
NM_206933.3:c.13546G>C NP_996816.2:p.Gly4516Arg
NM_206933.4:c.13546G>C MANE Select NP_996816.3:p.Gly4516Arg
Search 100 bp 5'
Search 100 bp 3'