Canonical Allele Identifier: CA143435

Gene: USH2A

Linked Data

• ClinVar Variation Id: 48483
• ClinVar RCV Id: RCV000041806 ; RCV000993540 ; RCV001097277 ; RCV001097278
• dbSNP Id: rs45555435
• ExAC: 1:216424303 A / G
• gnomAD v2: 1-216424303-A-G
• gnomAD v3: 1-216250961-A-G
• gnomAD v4: 1-216250961-A-G
• MyVariant Identifiers: chr1:g.216424303A>G (hg19) ; chr1:g.216250961A>G (hg38)
• PubMed: PMID:10729113 ; PMID:10738000 ; PMID:17296898 ; PMID:18273898

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216250961A>G , CM000663.2:g.216250961A>G	GRCh38
NC_000001.10:g.216424303A>G , CM000663.1:g.216424303A>G	GRCh37
NC_000001.9:g.214490926A>G	NCBI36
NG_009497.1:g.177436T>C
NG_009497.2:g.177488T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000307340.8:c.2109T>C MANE Select	ENSP00000305941.3:p.Asp703=
ENST00000674083.1:c.2109T>C	ENSP00000501296.1:p.Asp703=
ENST00000307340.7:c.2109T>C	ENSP00000305941.3:p.Asp703=
ENST00000366942.3:c.2109T>C	ENSP00000355909.3:p.Asp703=
NM_007123.5:c.2109T>C	NP_009054.5:p.Asp703=
NM_206933.2:c.2109T>C	NP_996816.2:p.Asp703=
NM_206933.3:c.2109T>C	NP_996816.2:p.Asp703=
NM_007123.6:c.2109T>C	NP_009054.6:p.Asp703=
NM_206933.4:c.2109T>C MANE Select	NP_996816.3:p.Asp703=