Canonical Allele Identifier: CA270159

Gene: USH2A

Linked Data

• ClinVar Variation Id: 143183
• ClinVar RCV Id: RCV000132714 ; RCV003888574 ; RCV003462053 ; RCV003556178
• dbSNP Id: rs55958016
• gnomAD v3: 1-216000489-C-T
• gnomAD v4: 1-216000489-C-T
• MyVariant Identifiers: chr1:g.216173831C>T (hg19) ; chr1:g.216000489C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216000489C>T , CM000663.2:g.216000489C>T	GRCh38
NC_000001.10:g.216173831C>T , CM000663.1:g.216173831C>T	GRCh37
NC_000001.9:g.214240454C>T	NCBI36
NG_009497.1:g.427908G>A
NG_009497.2:g.427960G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.6399G>A MANE Select	ENSP00000305941.3:p.Trp2133Ter
ENST00000674083.1:c.6399G>A	ENSP00000501296.1:p.Trp2133Ter
ENST00000307340.7:c.6399G>A	ENSP00000305941.3:p.Trp2133Ter
NM_206933.2:c.6399G>A	NP_996816.2:p.Trp2133Ter
NM_206933.3:c.6399G>A	NP_996816.2:p.Trp2133Ter
NM_206933.4:c.6399G>A MANE Select	NP_996816.3:p.Trp2133Ter