Canonical Allele Identifier: CA143444

Gene: USH2A

Linked Data

• ClinVar Variation Id: 48489
• ClinVar RCV Id: RCV000041815 ; RCV000666896 ; RCV001075031 ; RCV001560407 ; RCV001376238
• dbSNP Id: rs368798834
• ExAC: 1:216595415 G / C
• gnomAD v2: 1-216595415-G-C
• gnomAD v3: 1-216422073-G-C
• gnomAD v4: 1-216422073-G-C
• MyVariant Identifiers: chr1:g.216595415G>C (hg19) ; chr1:g.216422073G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216422073G>C , CM000663.2:g.216422073G>C	GRCh38
NC_000001.10:g.216595415G>C , CM000663.1:g.216595415G>C	GRCh37
NC_000001.9:g.214662038G>C	NCBI36
NG_009497.1:g.6324C>G
NG_009497.2:g.6376C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.264C>G MANE Select	ENSP00000305941.3:p.Cys88Trp
ENST00000674083.1:c.264C>G	ENSP00000501296.1:p.Cys88Trp
ENST00000307340.7:c.264C>G	ENSP00000305941.3:p.Cys88Trp
ENST00000366942.3:c.264C>G	ENSP00000355909.3:p.Cys88Trp
NM_007123.5:c.264C>G	NP_009054.5:p.Cys88Trp
NM_206933.2:c.264C>G	NP_996816.2:p.Cys88Trp
NM_206933.3:c.264C>G	NP_996816.2:p.Cys88Trp
NM_007123.6:c.264C>G	NP_009054.6:p.Cys88Trp
NM_206933.4:c.264C>G MANE Select	NP_996816.3:p.Cys88Trp