Canonical Allele Identifier: CA143534

Gene: USH2A

Linked Data

• ClinVar Variation Id: 48546
• ClinVar RCV Id: RCV000041872 ; RCV000726918 ; RCV000765069 ; RCV000504937 ; RCV001196428 ; RCV001579152
• dbSNP Id: rs41302239
• ExAC: 1:216243634 G / C
• gnomAD v2: 1-216243634-G-C
• gnomAD v3: 1-216070292-G-C
• gnomAD v4: 1-216070292-G-C
• MyVariant Identifiers: chr1:g.216243634G>C (hg19) ; chr1:g.216070292G>C (hg38)
• PubMed: PMID:20507924 ; PMID:20591486 ; PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216070292G>C , CM000663.2:g.216070292G>C	GRCh38
NC_000001.10:g.216243634G>C , CM000663.1:g.216243634G>C	GRCh37
NC_000001.9:g.214310257G>C	NCBI36
NG_009497.1:g.358105C>G
NG_009497.2:g.358157C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.5858C>G MANE Select	ENSP00000305941.3:p.Ala1953Gly
ENST00000674083.1:c.5858C>G	ENSP00000501296.1:p.Ala1953Gly
ENST00000307340.7:c.5858C>G	ENSP00000305941.3:p.Ala1953Gly
NM_206933.2:c.5858C>G	NP_996816.2:p.Ala1953Gly
NM_206933.3:c.5858C>G	NP_996816.2:p.Ala1953Gly
NM_206933.4:c.5858C>G MANE Select	NP_996816.3:p.Ala1953Gly